'en:marked variability in severity of the skin lesions'
(id=9090752 ; fe=en:marked variability in severity of the skin lesions ; type=1 ; niveau=200 ; luminosité=25 ; somme entrante=15856 creation date=2017-10-27 touchdate=2025-05-30 19:20:03.000)

≈ 507 relations sortantes en:marked variability in severity of the skin lesions -- r_associated #0: 26 / 1 -> lésions n1=en:marked variability in severity of the skin lesions | n2=lésions | rel=r_associated | relid=0 | w=26 en:marked variability in severity of the skin lesions -- r_associated #0: 26 / 1 -> peau n1=en:marked variability in severity of the skin lesions | n2=peau | rel=r_associated | relid=0 | w=26 en:marked variability in severity of the skin lesions -- r_associated #0: 25 / 0.962 -> en:marked n1=en:marked variability in severity of the skin lesions | n2=en:marked | rel=r_associated | relid=0 | w=25 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:(3) adult nonnephropathic (219750) n1=en:marked variability in severity of the skin lesions | n2=en:(3) adult nonnephropathic (219750) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:50% of cases represent new mutations associated with advanced paternal age n1=en:marked variability in severity of the skin lesions | n2=en:50% of cases represent new mutations associated with advanced paternal age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:a milder form has also been reported n1=en:marked variability in severity of the skin lesions | n2=en:a milder form has also been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:abnormal sensitivity to therapeutic radiation n1=en:marked variability in severity of the skin lesions | n2=en:abnormal sensitivity to therapeutic radiation | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:about 20% of female mutation carriers may show mild muscle weakness n1=en:marked variability in severity of the skin lesions | n2=en:about 20% of female mutation carriers may show mild muscle weakness | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:absence seizures show onset between 3.5 and 4 years n1=en:marked variability in severity of the skin lesions | n2=en:absence seizures show onset between 3.5 and 4 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:adrenal insufficiency usually develops later (first decade) n1=en:marked variability in severity of the skin lesions | n2=en:adrenal insufficiency usually develops later (first decade) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:adult onset n1=en:marked variability in severity of the skin lesions | n2=en:adult onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:adult onset (20 to 50 years) n1=en:marked variability in severity of the skin lesions | n2=en:adult onset (20 to 50 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:adult onset (wide range of age) n1=en:marked variability in severity of the skin lesions | n2=en:adult onset (wide range of age) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:adult onset has been reported n1=en:marked variability in severity of the skin lesions | n2=en:adult onset has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth n1=en:marked variability in severity of the skin lesions | n2=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:affected individuals have a relatively mild ichthyosis phenotype n1=en:marked variability in severity of the skin lesions | n2=en:affected individuals have a relatively mild ichthyosis phenotype | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:affected individuals may have more than 1 cardiac structural defect, or none at all n1=en:marked variability in severity of the skin lesions | n2=en:affected individuals may have more than 1 cardiac structural defect, or none at all | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age at diagnosis 24 +/- 18 years for dominant disease n1=en:marked variability in severity of the skin lesions | n2=en:age at diagnosis 24 +/- 18 years for dominant disease | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age at onset 14 to 44 years n1=en:marked variability in severity of the skin lesions | n2=en:age at onset 14 to 44 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age at onset 8 to 55 years (mean 40 years) n1=en:marked variability in severity of the skin lesions | n2=en:age at onset 8 to 55 years (mean 40 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age at onset from 3 to 51 years (mean 19.2 years) n1=en:marked variability in severity of the skin lesions | n2=en:age at onset from 3 to 51 years (mean 19.2 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age of onset between 5 and 10 years of age n1=en:marked variability in severity of the skin lesions | n2=en:age of onset between 5 and 10 years of age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age of onset of distal lower limb weakness 8-16 years n1=en:marked variability in severity of the skin lesions | n2=en:age of onset of distal lower limb weakness 8-16 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age of onset ranges from 1 to 47 years n1=en:marked variability in severity of the skin lesions | n2=en:age of onset ranges from 1 to 47 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age of onset usually 1 week to 2 years n1=en:marked variability in severity of the skin lesions | n2=en:age of onset usually 1 week to 2 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age of onset varies ranging from 3 weeks to 22 years n1=en:marked variability in severity of the skin lesions | n2=en:age of onset varies ranging from 3 weeks to 22 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:age of onset/diagnosis 12-35 years n1=en:marked variability in severity of the skin lesions | n2=en:age of onset/diagnosis 12-35 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:all cases sporadic (18 males, 7 females) n1=en:marked variability in severity of the skin lesions | n2=en:all cases sporadic (18 males, 7 females) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:all features are unilateral n1=en:marked variability in severity of the skin lesions | n2=en:all features are unilateral | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic disorder to benign hereditary chorea (118700), which is less severe n1=en:marked variability in severity of the skin lesions | n2=en:allelic disorder to benign hereditary chorea (118700), which is less severe | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder n1=en:marked variability in severity of the skin lesions | n2=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic disorder to early-onset sarcoidosis (609464) n1=en:marked variability in severity of the skin lesions | n2=en:allelic disorder to early-onset sarcoidosis (609464) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic disorder to potassium-aggravated myotonia (608390) n1=en:marked variability in severity of the skin lesions | n2=en:allelic disorder to potassium-aggravated myotonia (608390) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) n1=en:marked variability in severity of the skin lesions | n2=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) n1=en:marked variability in severity of the skin lesions | n2=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) n1=en:marked variability in severity of the skin lesions | n2=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:allelic to metaphyseal dysplasia without hypotrichosis (250460) n1=en:marked variability in severity of the skin lesions | n2=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:anemia is responsive to corticosteroid treatment n1=en:marked variability in severity of the skin lesions | n2=en:anemia is responsive to corticosteroid treatment | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:approximately 40% of cases are inherited or new germline mutations n1=en:marked variability in severity of the skin lesions | n2=en:approximately 40% of cases are inherited or new germline mutations | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:approximately 50% of patients have situs inversus n1=en:marked variability in severity of the skin lesions | n2=en:approximately 50% of patients have situs inversus | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:approximately 70-80% of cases are de novo and sporadic n1=en:marked variability in severity of the skin lesions | n2=en:approximately 70-80% of cases are de novo and sporadic | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) n1=en:marked variability in severity of the skin lesions | n2=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:associated with advanced paternal age n1=en:marked variability in severity of the skin lesions | n2=en:associated with advanced paternal age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:associated with hemodialysis n1=en:marked variability in severity of the skin lesions | n2=en:associated with hemodialysis | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:associated with increased frequency of autoimmune diseases n1=en:marked variability in severity of the skin lesions | n2=en:associated with increased frequency of autoimmune diseases | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:associated with smoking n1=en:marked variability in severity of the skin lesions | n2=en:associated with smoking | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:asymptomatic patients may show changes on sd-oct n1=en:marked variability in severity of the skin lesions | n2=en:asymptomatic patients may show changes on sd-oct | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:attacks more common in women n1=en:marked variability in severity of the skin lesions | n2=en:attacks more common in women | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise n1=en:marked variability in severity of the skin lesions | n2=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:autoimmune features are variable n1=en:marked variability in severity of the skin lesions | n2=en:autoimmune features are variable | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:autosomal recessive disorder tends to be more severe n1=en:marked variability in severity of the skin lesions | n2=en:autosomal recessive disorder tends to be more severe | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:autosomal recessive form (277720) has also been described n1=en:marked variability in severity of the skin lesions | n2=en:autosomal recessive form (277720) has also been described | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:autosomal recessive inheritance with earlier onset has been reported in 3 patients n1=en:marked variability in severity of the skin lesions | n2=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:average age at diagnosis 17.8 years (range 2-35 years) n1=en:marked variability in severity of the skin lesions | n2=en:average age at diagnosis 17.8 years (range 2-35 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:average age at onset between 40 and 50 years n1=en:marked variability in severity of the skin lesions | n2=en:average age at onset between 40 and 50 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:average disease duration of 7 years n1=en:marked variability in severity of the skin lesions | n2=en:average disease duration of 7 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:average onset 6-10 months (range 3-24) n1=en:marked variability in severity of the skin lesions | n2=en:average onset 6-10 months (range 3-24) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:average onset of seizures 6 months (range 3-12) n1=en:marked variability in severity of the skin lesions | n2=en:average onset of seizures 6 months (range 3-12) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) n1=en:marked variability in severity of the skin lesions | n2=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:based on one jordanian family (last curated august 2015) n1=en:marked variability in severity of the skin lesions | n2=en:based on one jordanian family (last curated august 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:based on one large dutch family (last curated august 2015) n1=en:marked variability in severity of the skin lesions | n2=en:based on one large dutch family (last curated august 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:based on one sib pair each in their seventies n1=en:marked variability in severity of the skin lesions | n2=en:based on one sib pair each in their seventies | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:based on report of 2 individuals (last curated november 2013) n1=en:marked variability in severity of the skin lesions | n2=en:based on report of 2 individuals (last curated november 2013) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:based on report of 2 sibs in 2008 n1=en:marked variability in severity of the skin lesions | n2=en:based on report of 2 sibs in 2008 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:based on report of 4 patients from 1 family (last curated july 2015) n1=en:marked variability in severity of the skin lesions | n2=en:based on report of 4 patients from 1 family (last curated july 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:bleeding is usually delayed-onset after challenge n1=en:marked variability in severity of the skin lesions | n2=en:bleeding is usually delayed-onset after challenge | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:blisters are precipitated by minor skin trauma n1=en:marked variability in severity of the skin lesions | n2=en:blisters are precipitated by minor skin trauma | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:both autosomal dominant and autosomal recessive inheritance has been described n1=en:marked variability in severity of the skin lesions | n2=en:both autosomal dominant and autosomal recessive inheritance has been described | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:both mutations occurred de novo n1=en:marked variability in severity of the skin lesions | n2=en:both mutations occurred de novo | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:boys are more often affected than girls (3:2) n1=en:marked variability in severity of the skin lesions | n2=en:boys are more often affected than girls (3:2) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:can also be caused by contiguous gene deletion on chromosome 22q11.2 n1=en:marked variability in severity of the skin lesions | n2=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:cardiac examination is usually unremarkable n1=en:marked variability in severity of the skin lesions | n2=en:cardiac examination is usually unremarkable | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:cardiomyopathy is not a feature n1=en:marked variability in severity of the skin lesions | n2=en:cardiomyopathy is not a feature | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:carrier females may have mild intellectual disability n1=en:marked variability in severity of the skin lesions | n2=en:carrier females may have mild intellectual disability | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:carrier females show no phenotypic abnormalities, but may have learning difficulties n1=en:marked variability in severity of the skin lesions | n2=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:caused by inheritance of the mutation on the paternal allele (imprinting) n1=en:marked variability in severity of the skin lesions | n2=en:caused by inheritance of the mutation on the paternal allele (imprinting) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:child often can sit unsupported but never ambulates n1=en:marked variability in severity of the skin lesions | n2=en:child often can sit unsupported but never ambulates | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:childhood onset n1=en:marked variability in severity of the skin lesions | n2=en:childhood onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:childhood or adolescent onset (usually less than 25 years) n1=en:marked variability in severity of the skin lesions | n2=en:childhood or adolescent onset (usually less than 25 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:chronic course with exacerbations and remissions n1=en:marked variability in severity of the skin lesions | n2=en:chronic course with exacerbations and remissions | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:classic severe form shows onset at 2 to 3 months of age n1=en:marked variability in severity of the skin lesions | n2=en:classic severe form shows onset at 2 to 3 months of age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:clinical and biochemical abnormalities disappear with age n1=en:marked variability in severity of the skin lesions | n2=en:clinical and biochemical abnormalities disappear with age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:clinical presentation varies from asymptomatic to fulminant course n1=en:marked variability in severity of the skin lesions | n2=en:clinical presentation varies from asymptomatic to fulminant course | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood n1=en:marked variability in severity of the skin lesions | n2=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:clinical variability, both pure and complicated forms n1=en:marked variability in severity of the skin lesions | n2=en:clinical variability, both pure and complicated forms | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers n1=en:marked variability in severity of the skin lesions | n2=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:coloboma is associated with larger microdeletion (490kb) of 11q13 n1=en:marked variability in severity of the skin lesions | n2=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:color vision defects may not be part of the phenotype n1=en:marked variability in severity of the skin lesions | n2=en:color vision defects may not be part of the phenotype | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:compound heterozygosity common n1=en:marked variability in severity of the skin lesions | n2=en:compound heterozygosity common | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty n1=en:marked variability in severity of the skin lesions | n2=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:congenital onset n1=en:marked variability in severity of the skin lesions | n2=en:congenital onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:contractures other than plantar are less common and less severe n1=en:marked variability in severity of the skin lesions | n2=en:contractures other than plantar are less common and less severe | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:cutaneous symptoms induced by cold exposure or cooling n1=en:marked variability in severity of the skin lesions | n2=en:cutaneous symptoms induced by cold exposure or cooling | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:deafness tends to occur before other neurologic signs, except in patients with very early onset n1=en:marked variability in severity of the skin lesions | n2=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death before age 40 n1=en:marked variability in severity of the skin lesions | n2=en:death before age 40 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death due to rapidly progressive pulmonary fibrosis in infancy n1=en:marked variability in severity of the skin lesions | n2=en:death due to rapidly progressive pulmonary fibrosis in infancy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death from pneumonia n1=en:marked variability in severity of the skin lesions | n2=en:death from pneumonia | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death in fourth to fifth decade n1=en:marked variability in severity of the skin lesions | n2=en:death in fourth to fifth decade | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death in infancy in 2 patients n1=en:marked variability in severity of the skin lesions | n2=en:death in infancy in 2 patients | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death in infancy secondary to respiratory insufficiency/pneumonia n1=en:marked variability in severity of the skin lesions | n2=en:death in infancy secondary to respiratory insufficiency/pneumonia | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death in majority of infants soon after birth n1=en:marked variability in severity of the skin lesions | n2=en:death in majority of infants soon after birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death in perinatal period n1=en:marked variability in severity of the skin lesions | n2=en:death in perinatal period | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death in third or fourth decades, usually due to respiratory infection n1=en:marked variability in severity of the skin lesions | n2=en:death in third or fourth decades, usually due to respiratory infection | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death may occur in infancy n1=en:marked variability in severity of the skin lesions | n2=en:death may occur in infancy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death often occurs in childhood n1=en:marked variability in severity of the skin lesions | n2=en:death often occurs in childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death secondary to renal failure, cardiac or cerebrovascular disease n1=en:marked variability in severity of the skin lesions | n2=en:death secondary to renal failure, cardiac or cerebrovascular disease | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death secondary to respiratory infection or failure before age 2 years n1=en:marked variability in severity of the skin lesions | n2=en:death secondary to respiratory infection or failure before age 2 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death usually in childhood n1=en:marked variability in severity of the skin lesions | n2=en:death usually in childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death usually in first year of life n1=en:marked variability in severity of the skin lesions | n2=en:death usually in first year of life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:death usually in newborn period or infancy n1=en:marked variability in severity of the skin lesions | n2=en:death usually in newborn period or infancy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:deposits may recur in graft after corneal transplantation n1=en:marked variability in severity of the skin lesions | n2=en:deposits may recur in graft after corneal transplantation | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) n1=en:marked variability in severity of the skin lesions | n2=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features n1=en:marked variability in severity of the skin lesions | n2=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:diagnosis within the first 3 months of life n1=en:marked variability in severity of the skin lesions | n2=en:diagnosis within the first 3 months of life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:diarrhea worsens in parallel with increases in severity of skin disease n1=en:marked variability in severity of the skin lesions | n2=en:diarrhea worsens in parallel with increases in severity of skin disease | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:discordant phenotype among monozygotic twins has been reported n1=en:marked variability in severity of the skin lesions | n2=en:discordant phenotype among monozygotic twins has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:disease shows slow progression n1=en:marked variability in severity of the skin lesions | n2=en:disease shows slow progression | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:distinct from pseudopili annulati (613241) n1=en:marked variability in severity of the skin lesions | n2=en:distinct from pseudopili annulati (613241) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:diurnal fluctuation n1=en:marked variability in severity of the skin lesions | n2=en:diurnal fluctuation | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:diurnal fluctuation of neurologic symptoms n1=en:marked variability in severity of the skin lesions | n2=en:diurnal fluctuation of neurologic symptoms | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) n1=en:marked variability in severity of the skin lesions | n2=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:drug-induced dyskinesias occur in a subset of patients n1=en:marked variability in severity of the skin lesions | n2=en:drug-induced dyskinesias occur in a subset of patients | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:dwarfism not detectable at birth n1=en:marked variability in severity of the skin lesions | n2=en:dwarfism not detectable at birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:earlier onset is associated with a more severe disorder n1=en:marked variability in severity of the skin lesions | n2=en:earlier onset is associated with a more severe disorder | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:earlier onset is associated with more rapid progression n1=en:marked variability in severity of the skin lesions | n2=en:earlier onset is associated with more rapid progression | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:early adult onset has been reported n1=en:marked variability in severity of the skin lesions | n2=en:early adult onset has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:early death (usually by 3 years of age) n1=en:marked variability in severity of the skin lesions | n2=en:early death (usually by 3 years of age) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:early death due to sepsis n1=en:marked variability in severity of the skin lesions | n2=en:early death due to sepsis | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:early death in males n1=en:marked variability in severity of the skin lesions | n2=en:early death in males | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:early death may occur n1=en:marked variability in severity of the skin lesions | n2=en:early death may occur | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:early death occurs in affected infants (days to months after disease onset) n1=en:marked variability in severity of the skin lesions | n2=en:early death occurs in affected infants (days to months after disease onset) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:early onset (9-48 years, but reported up to 68 years) n1=en:marked variability in severity of the skin lesions | n2=en:early onset (9-48 years, but reported up to 68 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:elevated body temperatures to 42 degrees celsius n1=en:marked variability in severity of the skin lesions | n2=en:elevated body temperatures to 42 degrees celsius | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:end-stage renal failure may occur n1=en:marked variability in severity of the skin lesions | n2=en:end-stage renal failure may occur | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:episode frequency is monthly to yearly, and decreases with age n1=en:marked variability in severity of the skin lesions | n2=en:episode frequency is monthly to yearly, and decreases with age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:episodes last from several hours to days n1=en:marked variability in severity of the skin lesions | n2=en:episodes last from several hours to days | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat n1=en:marked variability in severity of the skin lesions | n2=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:episodes occur 30 minutes to 3 hours after exposure to cold n1=en:marked variability in severity of the skin lesions | n2=en:episodes occur 30 minutes to 3 hours after exposure to cold | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:estimated frequence 1/3000 to 1/5000 n1=en:marked variability in severity of the skin lesions | n2=en:estimated frequence 1/3000 to 1/5000 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:estimated frequency 1/2000-1/4000 individuals n1=en:marked variability in severity of the skin lesions | n2=en:estimated frequency 1/2000-1/4000 individuals | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:estimated incidence of 1-2 in 10,000 n1=en:marked variability in severity of the skin lesions | n2=en:estimated incidence of 1-2 in 10,000 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:exacerbated by stress n1=en:marked variability in severity of the skin lesions | n2=en:exacerbated by stress | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:excessive postsurgical blood loss n1=en:marked variability in severity of the skin lesions | n2=en:excessive postsurgical blood loss | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:excessive skin picking of sores n1=en:marked variability in severity of the skin lesions | n2=en:excessive skin picking of sores | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:extrapyramidal signs show a favorable response to levodopa n1=en:marked variability in severity of the skin lesions | n2=en:extrapyramidal signs show a favorable response to levodopa | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:eye involvement begins at birth, neurologic involvement begins later n1=en:marked variability in severity of the skin lesions | n2=en:eye involvement begins at birth, neurologic involvement begins later | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:facial dysmorphic features are mild n1=en:marked variability in severity of the skin lesions | n2=en:facial dysmorphic features are mild | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:facial palsy often transient in infancy n1=en:marked variability in severity of the skin lesions | n2=en:facial palsy often transient in infancy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:familial occurrence is rare n1=en:marked variability in severity of the skin lesions | n2=en:familial occurrence is rare | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:family a had a severe multisystem disorder resulting in death before age 2 years n1=en:marked variability in severity of the skin lesions | n2=en:family a had a severe multisystem disorder resulting in death before age 2 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:fatal before age 2 years n1=en:marked variability in severity of the skin lesions | n2=en:fatal before age 2 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:favorable response to 3,4-diaminopyridine n1=en:marked variability in severity of the skin lesions | n2=en:favorable response to 3,4-diaminopyridine | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:favorable response to ephedrine treatment n1=en:marked variability in severity of the skin lesions | n2=en:favorable response to ephedrine treatment | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:female carriers may be affected n1=en:marked variability in severity of the skin lesions | n2=en:female carriers may be affected | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:female carriers may be mildly affected n1=en:marked variability in severity of the skin lesions | n2=en:female carriers may be mildly affected | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only n1=en:marked variability in severity of the skin lesions | n2=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:female carriers may show intermittent hematuria n1=en:marked variability in severity of the skin lesions | n2=en:female carriers may show intermittent hematuria | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:females often show milder phenotype with later onset of cardiac symptoms n1=en:marked variability in severity of the skin lesions | n2=en:females often show milder phenotype with later onset of cardiac symptoms | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:few familial (parent offspring) cases reported n1=en:marked variability in severity of the skin lesions | n2=en:few familial (parent offspring) cases reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:first fracture in early childhood n1=en:marked variability in severity of the skin lesions | n2=en:first fracture in early childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:fishy body odor n1=en:marked variability in severity of the skin lesions | n2=en:fishy body odor | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:foot deformities are present in infancy or childhood n1=en:marked variability in severity of the skin lesions | n2=en:foot deformities are present in infancy or childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) n1=en:marked variability in severity of the skin lesions | n2=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:four patients from 3 families have been reported (last curated march 2016) n1=en:marked variability in severity of the skin lesions | n2=en:four patients from 3 families have been reported (last curated march 2016) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form n1=en:marked variability in severity of the skin lesions | n2=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:four unrelated families have been reported (last curated august 2015) n1=en:marked variability in severity of the skin lesions | n2=en:four unrelated families have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:four unrelated families have been reported (last curated september 2015) n1=en:marked variability in severity of the skin lesions | n2=en:four unrelated families have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:fracture frequency decreased post puberty n1=en:marked variability in severity of the skin lesions | n2=en:fracture frequency decreased post puberty | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:fractures and dental caries and premature secondary tooth loss occur in adulthood n1=en:marked variability in severity of the skin lesions | n2=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:fractures can occur in utero, during labor and delivery, or in newborn period n1=en:marked variability in severity of the skin lesions | n2=en:fractures can occur in utero, during labor and delivery, or in newborn period | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:fractures decrease after puberty but increase after menopause n1=en:marked variability in severity of the skin lesions | n2=en:fractures decrease after puberty but increase after menopause | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:frequency and severity of symptoms do not worsen with age n1=en:marked variability in severity of the skin lesions | n2=en:frequency and severity of symptoms do not worsen with age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:frequency of infections decreases after 3 years of age n1=en:marked variability in severity of the skin lesions | n2=en:frequency of infections decreases after 3 years of age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:full recovery after attacks n1=en:marked variability in severity of the skin lesions | n2=en:full recovery after attacks | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:gastric suction pump, home model, portable or stationary, electric n1=en:marked variability in severity of the skin lesions | n2=en:gastric suction pump, home model, portable or stationary, electric | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) n1=en:marked variability in severity of the skin lesions | n2=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:genetic heterogeneity (see 116800 for summary) n1=en:marked variability in severity of the skin lesions | n2=en:genetic heterogeneity (see 116800 for summary) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:genetic heterogeneity (see 161800) n1=en:marked variability in severity of the skin lesions | n2=en:genetic heterogeneity (see 161800) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:genetic heterogeneity (see 605407) n1=en:marked variability in severity of the skin lesions | n2=en:genetic heterogeneity (see 605407) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:genetic heterogeneity (see 609192) n1=en:marked variability in severity of the skin lesions | n2=en:genetic heterogeneity (see 609192) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:genetic heterogeneity (see mcc1 deficiency 210200) n1=en:marked variability in severity of the skin lesions | n2=en:genetic heterogeneity (see mcc1 deficiency 210200) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:gonadal and somatic mosaicism reported in parent n1=en:marked variability in severity of the skin lesions | n2=en:gonadal and somatic mosaicism reported in parent | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:good response to steroid treatment n1=en:marked variability in severity of the skin lesions | n2=en:good response to steroid treatment | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:gradual progression n1=en:marked variability in severity of the skin lesions | n2=en:gradual progression | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:great variation in extent of hypertrophy in mutation-positive individuals n1=en:marked variability in severity of the skin lesions | n2=en:great variation in extent of hypertrophy in mutation-positive individuals | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hair regrowth may occur later in life n1=en:marked variability in severity of the skin lesions | n2=en:hair regrowth may occur later in life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) n1=en:marked variability in severity of the skin lesions | n2=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hands clenched at birth but loosen in infancy n1=en:marked variability in severity of the skin lesions | n2=en:hands clenched at birth but loosen in infancy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hearing loss occurs in late childhood n1=en:marked variability in severity of the skin lesions | n2=en:hearing loss occurs in late childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hearing loss occurs later if at all n1=en:marked variability in severity of the skin lesions | n2=en:hearing loss occurs later if at all | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hepatic failure develops in first months of life n1=en:marked variability in severity of the skin lesions | n2=en:hepatic failure develops in first months of life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hepatomegaly improves with age and disappears around puberty n1=en:marked variability in severity of the skin lesions | n2=en:hepatomegaly improves with age and disappears around puberty | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol n1=en:marked variability in severity of the skin lesions | n2=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygotes are not affected n1=en:marked variability in severity of the skin lesions | n2=en:heterozygotes are not affected | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents n1=en:marked variability in severity of the skin lesions | n2=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment n1=en:marked variability in severity of the skin lesions | n2=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea n1=en:marked variability in severity of the skin lesions | n2=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygous females may exhibit variable degrees of enzyme deficiency n1=en:marked variability in severity of the skin lesions | n2=en:heterozygous females may exhibit variable degrees of enzyme deficiency | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygous females may have situs inversus or other midline defects n1=en:marked variability in severity of the skin lesions | n2=en:heterozygous females may have situs inversus or other midline defects | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygous females more mildly affected than hemizygous males n1=en:marked variability in severity of the skin lesions | n2=en:heterozygous females more mildly affected than hemizygous males | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:heterozygous mutation carriers may have late-onset of mild symptoms n1=en:marked variability in severity of the skin lesions | n2=en:heterozygous mutation carriers may have late-onset of mild symptoms | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:high frequencies affected before low frequencies n1=en:marked variability in severity of the skin lesions | n2=en:high frequencies affected before low frequencies | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:high frequency hearing loss progresses to include all frequencies n1=en:marked variability in severity of the skin lesions | n2=en:high frequency hearing loss progresses to include all frequencies | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:high frequency of absence seizures (several per day) n1=en:marked variability in severity of the skin lesions | n2=en:high frequency of absence seizures (several per day) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:high frequency of levodopa-induced dyskinesias n1=en:marked variability in severity of the skin lesions | n2=en:high frequency of levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:high recurrence rate n1=en:marked variability in severity of the skin lesions | n2=en:high recurrence rate | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:high risk of recurrence after surgery n1=en:marked variability in severity of the skin lesions | n2=en:high risk of recurrence after surgery | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly penetrant, but low morbidity n1=en:marked variability in severity of the skin lesions | n2=en:highly penetrant, but low morbidity | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable clinical phenotype n1=en:marked variability in severity of the skin lesions | n2=en:highly variable clinical phenotype | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable expression n1=en:marked variability in severity of the skin lesions | n2=en:highly variable expression | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable frequency and duration of episodes n1=en:marked variability in severity of the skin lesions | n2=en:highly variable frequency and duration of episodes | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable frequency and severity of attacks n1=en:marked variability in severity of the skin lesions | n2=en:highly variable frequency and severity of attacks | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable organ involvement and severity n1=en:marked variability in severity of the skin lesions | n2=en:highly variable organ involvement and severity | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable phenotype and severity n1=en:marked variability in severity of the skin lesions | n2=en:highly variable phenotype and severity | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') n1=en:marked variability in severity of the skin lesions | n2=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) n1=en:marked variability in severity of the skin lesions | n2=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable phenotype with respect to facial dysmorphism and neurologic features n1=en:marked variability in severity of the skin lesions | n2=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable phenotype, even within families n1=en:marked variability in severity of the skin lesions | n2=en:highly variable phenotype, even within families | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable phenotype, ranging from asymptomatic to severe n1=en:marked variability in severity of the skin lesions | n2=en:highly variable phenotype, ranging from asymptomatic to severe | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable phenotype, some adults may be asymptomatic n1=en:marked variability in severity of the skin lesions | n2=en:highly variable phenotype, some adults may be asymptomatic | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable severity and features n1=en:marked variability in severity of the skin lesions | n2=en:highly variable severity and features | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence n1=en:marked variability in severity of the skin lesions | n2=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hip joint replacement often necessary n1=en:marked variability in severity of the skin lesions | n2=en:hip joint replacement often necessary | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:homozygotes have more severe disease with earlier onset of thrombosis n1=en:marked variability in severity of the skin lesions | n2=en:homozygotes have more severe disease with earlier onset of thrombosis | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) n1=en:marked variability in severity of the skin lesions | n2=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth n1=en:marked variability in severity of the skin lesions | n2=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hyperkeratosis often present at birth but may appear later n1=en:marked variability in severity of the skin lesions | n2=en:hyperkeratosis often present at birth but may appear later | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hypersensitivity to ionizing radiation n1=en:marked variability in severity of the skin lesions | n2=en:hypersensitivity to ionizing radiation | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hyperthermia in early childhood n1=en:marked variability in severity of the skin lesions | n2=en:hyperthermia in early childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:hypothyroidism is less severe in individuals with high dietary iodine intake n1=en:marked variability in severity of the skin lesions | n2=en:hypothyroidism is less severe in individuals with high dietary iodine intake | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:icelandic families n1=en:marked variability in severity of the skin lesions | n2=en:icelandic families | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:immunologic defects are variable n1=en:marked variability in severity of the skin lesions | n2=en:immunologic defects are variable | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:improvement with age n1=en:marked variability in severity of the skin lesions | n2=en:improvement with age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:in general, men have more severe disease than women n1=en:marked variability in severity of the skin lesions | n2=en:in general, men have more severe disease than women | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:in severe attacks, hemiplegia or coma may last days to weeks n1=en:marked variability in severity of the skin lesions | n2=en:in severe attacks, hemiplegia or coma may last days to weeks | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:in the absence of hydrops, death occurs within 3 months n1=en:marked variability in severity of the skin lesions | n2=en:in the absence of hydrops, death occurs within 3 months | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence - 1/16,000 live births n1=en:marked variability in severity of the skin lesions | n2=en:incidence - 1/16,000 live births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence 1 in 15,000-28,000 births n1=en:marked variability in severity of the skin lesions | n2=en:incidence 1 in 15,000-28,000 births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence 1 in 30,000 male births n1=en:marked variability in severity of the skin lesions | n2=en:incidence 1 in 30,000 male births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence 1 in 8,000 live births n1=en:marked variability in severity of the skin lesions | n2=en:incidence 1 in 8,000 live births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence 1-1.5/1,000 live births n1=en:marked variability in severity of the skin lesions | n2=en:incidence 1-1.5/1,000 live births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence 1/100,000 - 1/200,000 live births n1=en:marked variability in severity of the skin lesions | n2=en:incidence 1/100,000 - 1/200,000 live births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence 8/1,000 newborns n1=en:marked variability in severity of the skin lesions | n2=en:incidence 8/1,000 newborns | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births n1=en:marked variability in severity of the skin lesions | n2=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 1.5 million births n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 1.5 million births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 10,000 to 1 in 20,000 n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 10,000 to 1 in 20,000 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 100,000 births n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 100,000 births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 100,000 to 125,000 at birth n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 100,000 to 125,000 at birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 120,000 live births n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 120,000 live births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 3,500 boys n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 3,500 boys | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 39,000 n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 39,000 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 5,000 to 1 in 10,000 n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 5,000 to 1 in 10,000 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 50,000 to 1 in 100,000 n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 50,000 to 1 in 100,000 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence of 1 in 57,000 n1=en:marked variability in severity of the skin lesions | n2=en:incidence of 1 in 57,000 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence ranges from 1 in 40,000 to 1 in 350,000 births n1=en:marked variability in severity of the skin lesions | n2=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes n1=en:marked variability in severity of the skin lesions | n2=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incomplete penetrance n1=en:marked variability in severity of the skin lesions | n2=en:incomplete penetrance | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incomplete penetrance (50%) n1=en:marked variability in severity of the skin lesions | n2=en:incomplete penetrance (50%) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incomplete penetrance in carrier females n1=en:marked variability in severity of the skin lesions | n2=en:incomplete penetrance in carrier females | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incomplete penetrance in some families n1=en:marked variability in severity of the skin lesions | n2=en:incomplete penetrance in some families | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incomplete penetrance of optic atrophy n1=en:marked variability in severity of the skin lesions | n2=en:incomplete penetrance of optic atrophy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:incomplete penetrance with 45 to 51 repeats n1=en:marked variability in severity of the skin lesions | n2=en:incomplete penetrance with 45 to 51 repeats | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased aneuploidy in offspring n1=en:marked variability in severity of the skin lesions | n2=en:increased aneuploidy in offspring | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased male to female ratio (7.5:1) n1=en:marked variability in severity of the skin lesions | n2=en:increased male to female ratio (7.5:1) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased paternal age n1=en:marked variability in severity of the skin lesions | n2=en:increased paternal age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased recurrence risk with parental translocation n1=en:marked variability in severity of the skin lesions | n2=en:increased recurrence risk with parental translocation | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased risk of early death n1=en:marked variability in severity of the skin lesions | n2=en:increased risk of early death | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased risk of myeloproliferative disorders in those with somatic mutations n1=en:marked variability in severity of the skin lesions | n2=en:increased risk of myeloproliferative disorders in those with somatic mutations | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased sensitivity to valproic acid toxicity n1=en:marked variability in severity of the skin lesions | n2=en:increased sensitivity to valproic acid toxicity | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:increased susceptibility to multiple carcinomas n1=en:marked variability in severity of the skin lesions | n2=en:increased susceptibility to multiple carcinomas | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:independent ambulation is maintained n1=en:marked variability in severity of the skin lesions | n2=en:independent ambulation is maintained | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infantile form accounts for 90% of cases n1=en:marked variability in severity of the skin lesions | n2=en:infantile form accounts for 90% of cases | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infantile form has onset within first 6 months of life n1=en:marked variability in severity of the skin lesions | n2=en:infantile form has onset within first 6 months of life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infantile onset n1=en:marked variability in severity of the skin lesions | n2=en:infantile onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infantile onset with hepatic involvement n1=en:marked variability in severity of the skin lesions | n2=en:infantile onset with hepatic involvement | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infantile, late-infantile, juvenile, and adult onset have been reported n1=en:marked variability in severity of the skin lesions | n2=en:infantile, late-infantile, juvenile, and adult onset have been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infants are stillborn or die shortly after birth n1=en:marked variability in severity of the skin lesions | n2=en:infants are stillborn or die shortly after birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infants may have acute life-threatening crises n1=en:marked variability in severity of the skin lesions | n2=en:infants may have acute life-threatening crises | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infants show normal size and appearance n1=en:marked variability in severity of the skin lesions | n2=en:infants show normal size and appearance | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:infections may precipitate ketotic episodes n1=en:marked variability in severity of the skin lesions | n2=en:infections may precipitate ketotic episodes | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:inflammatory arthritis may develop in 30% of patients n1=en:marked variability in severity of the skin lesions | n2=en:inflammatory arthritis may develop in 30% of patients | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:inflammatory bowel disease may develop in childhood or adolescence n1=en:marked variability in severity of the skin lesions | n2=en:inflammatory bowel disease may develop in childhood or adolescence | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:inheritance pattern is unclear n1=en:marked variability in severity of the skin lesions | n2=en:inheritance pattern is unclear | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:initial development may appear normal n1=en:marked variability in severity of the skin lesions | n2=en:initial development may appear normal | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:initial hearing loss is mild progressing to severe or profound by the seventh decade n1=en:marked variability in severity of the skin lesions | n2=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:insidious onset n1=en:marked variability in severity of the skin lesions | n2=en:insidious onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years n1=en:marked variability in severity of the skin lesions | n2=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:interfamilial and intrafamilial clinical heterogeneity n1=en:marked variability in severity of the skin lesions | n2=en:interfamilial and intrafamilial clinical heterogeneity | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:intermediate expression in females n1=en:marked variability in severity of the skin lesions | n2=en:intermediate expression in females | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:intermittent exacerbations n1=en:marked variability in severity of the skin lesions | n2=en:intermittent exacerbations | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:internal organ rupture may occur n1=en:marked variability in severity of the skin lesions | n2=en:internal organ rupture may occur | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:intracellular accumulation of material can occur in neuronal and nonneuronal cells n1=en:marked variability in severity of the skin lesions | n2=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance n1=en:marked variability in severity of the skin lesions | n2=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:intrafamilial phenotypic variation may occur n1=en:marked variability in severity of the skin lesions | n2=en:intrafamilial phenotypic variation may occur | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:intrafamilial variability in number of missing teeth n1=en:marked variability in severity of the skin lesions | n2=en:intrafamilial variability in number of missing teeth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:isolated finding n1=en:marked variability in severity of the skin lesions | n2=en:isolated finding | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:itch, pain, and body malodor often n1=en:marked variability in severity of the skin lesions | n2=en:itch, pain, and body malodor often | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:joint laxity decreases with age n1=en:marked variability in severity of the skin lesions | n2=en:joint laxity decreases with age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:joint symptoms begin in third or fourth decade n1=en:marked variability in severity of the skin lesions | n2=en:joint symptoms begin in third or fourth decade | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:juvenile form has onset between 4 and 19 years n1=en:marked variability in severity of the skin lesions | n2=en:juvenile form has onset between 4 and 19 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:juvenile onset 4 years to puberty n1=en:marked variability in severity of the skin lesions | n2=en:juvenile onset 4 years to puberty | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:juvenile rigid early-onset form more often paternally inherited n1=en:marked variability in severity of the skin lesions | n2=en:juvenile rigid early-onset form more often paternally inherited | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:ketogenic diet may be effective n1=en:marked variability in severity of the skin lesions | n2=en:ketogenic diet may be effective | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lack of treatment results in early death n1=en:marked variability in severity of the skin lesions | n2=en:lack of treatment results in early death | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:late adult onset (after age 55 years) n1=en:marked variability in severity of the skin lesions | n2=en:late adult onset (after age 55 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:late infantile onset 6-24 months n1=en:marked variability in severity of the skin lesions | n2=en:late infantile onset 6-24 months | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:late-adult onset n1=en:marked variability in severity of the skin lesions | n2=en:late-adult onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:late-adult onset (fifth to sixth decade) n1=en:marked variability in severity of the skin lesions | n2=en:late-adult onset (fifth to sixth decade) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:late-adult onset has been reported n1=en:marked variability in severity of the skin lesions | n2=en:late-adult onset has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:late-onset, slowly progressing form of retinitis pigmentosa n1=en:marked variability in severity of the skin lesions | n2=en:late-onset, slowly progressing form of retinitis pigmentosa | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:later onset (late childhood to young adult) has been reported n1=en:marked variability in severity of the skin lesions | n2=en:later onset (late childhood to young adult) has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:later onset can also occur (up to age 17 years) n1=en:marked variability in severity of the skin lesions | n2=en:later onset can also occur (up to age 17 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:later onset has been reported n1=en:marked variability in severity of the skin lesions | n2=en:later onset has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:later onset may occur n1=en:marked variability in severity of the skin lesions | n2=en:later onset may occur | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:later onset of neurologic features n1=en:marked variability in severity of the skin lesions | n2=en:later onset of neurologic features | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) n1=en:marked variability in severity of the skin lesions | n2=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:left side involvement more frequent than right side involvement n1=en:marked variability in severity of the skin lesions | n2=en:left side involvement more frequent than right side involvement | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:left sided involvement occurs more frequently n1=en:marked variability in severity of the skin lesions | n2=en:left sided involvement occurs more frequently | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:leg pain during childhood n1=en:marked variability in severity of the skin lesions | n2=en:leg pain during childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:length of attack, 3 to 7 days n1=en:marked variability in severity of the skin lesions | n2=en:length of attack, 3 to 7 days | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lesions apparent at birth n1=en:marked variability in severity of the skin lesions | n2=en:lesions apparent at birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lesions continue to grow until epiphyseal plate closure n1=en:marked variability in severity of the skin lesions | n2=en:lesions continue to grow until epiphyseal plate closure | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lesions provoked by friction, sun exposure, heat, and injury n1=en:marked variability in severity of the skin lesions | n2=en:lesions provoked by friction, sun exposure, heat, and injury | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:less than 20% have onset at 18 years of age or less (dominant and recessive) n1=en:marked variability in severity of the skin lesions | n2=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lethal n1=en:marked variability in severity of the skin lesions | n2=en:lethal | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lethal in males n1=en:marked variability in severity of the skin lesions | n2=en:lethal in males | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lethal in utero or perinatal lethal n1=en:marked variability in severity of the skin lesions | n2=en:lethal in utero or perinatal lethal | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:levodopa-induced dyskinesias n1=en:marked variability in severity of the skin lesions | n2=en:levodopa-induced dyskinesias | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:life-threatening infections n1=en:marked variability in severity of the skin lesions | n2=en:life-threatening infections | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lifelong occurrence n1=en:marked variability in severity of the skin lesions | n2=en:lifelong occurrence | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lifetime risk of breast cancer in mutation carriers is 60 to 85% n1=en:marked variability in severity of the skin lesions | n2=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% n1=en:marked variability in severity of the skin lesions | n2=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:limb malformations are variable n1=en:marked variability in severity of the skin lesions | n2=en:limb malformations are variable | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:live born infants die within few hours of birth n1=en:marked variability in severity of the skin lesions | n2=en:live born infants die within few hours of birth | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:liveborn often die within first week of life n1=en:marked variability in severity of the skin lesions | n2=en:liveborn often die within first week of life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:liver disease may be the most predominant finding n1=en:marked variability in severity of the skin lesions | n2=en:liver disease may be the most predominant finding | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:liver size returns to normal after 3 months to 3 years n1=en:marked variability in severity of the skin lesions | n2=en:liver size returns to normal after 3 months to 3 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:liver symptoms improve with age and disappear after puberty n1=en:marked variability in severity of the skin lesions | n2=en:liver symptoms improve with age and disappear after puberty | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:long headache duration (greater than 12 hours) n1=en:marked variability in severity of the skin lesions | n2=en:long headache duration (greater than 12 hours) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:loss of ambulation n1=en:marked variability in severity of the skin lesions | n2=en:loss of ambulation | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:loss of tumor suppressor gene n1=en:marked variability in severity of the skin lesions | n2=en:loss of tumor suppressor gene | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lower limb involvement occurs before upper limb involvement n1=en:marked variability in severity of the skin lesions | n2=en:lower limb involvement occurs before upper limb involvement | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:lower limb weakness is presenting feature n1=en:marked variability in severity of the skin lesions | n2=en:lower limb weakness is presenting feature | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:madelung deformity more frequent and more severe in females n1=en:marked variability in severity of the skin lesions | n2=en:madelung deformity more frequent and more severe in females | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:major cause of death is heart failure n1=en:marked variability in severity of the skin lesions | n2=en:major cause of death is heart failure | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:major fluid shifts may occur in severe cases n1=en:marked variability in severity of the skin lesions | n2=en:major fluid shifts may occur in severe cases | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority are isolated cases n1=en:marked variability in severity of the skin lesions | n2=en:majority are isolated cases | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority are stillborn or die in early neonatal period n1=en:marked variability in severity of the skin lesions | n2=en:majority are stillborn or die in early neonatal period | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority die in neonatal period secondary to respiratory insufficiency n1=en:marked variability in severity of the skin lesions | n2=en:majority die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of cases (95%) are sporadic n1=en:marked variability in severity of the skin lesions | n2=en:majority of cases (95%) are sporadic | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of cases are male n1=en:marked variability in severity of the skin lesions | n2=en:majority of cases are male | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of cases are sporadic, often in tall, thin men n1=en:marked variability in severity of the skin lesions | n2=en:majority of cases are sporadic, often in tall, thin men | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of cases diagnosed at age 10-15 years n1=en:marked variability in severity of the skin lesions | n2=en:majority of cases diagnosed at age 10-15 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of cases have been sporadic n1=en:marked variability in severity of the skin lesions | n2=en:majority of cases have been sporadic | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of cases sporadic n1=en:marked variability in severity of the skin lesions | n2=en:majority of cases sporadic | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of children die before age 2 n1=en:marked variability in severity of the skin lesions | n2=en:majority of children die before age 2 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of children die between 6 months and 5 yrs n1=en:marked variability in severity of the skin lesions | n2=en:majority of children die between 6 months and 5 yrs | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of patients are ambulatory n1=en:marked variability in severity of the skin lesions | n2=en:majority of patients are ambulatory | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of patients are stillborn or die before 5 months of age n1=en:marked variability in severity of the skin lesions | n2=en:majority of patients are stillborn or die before 5 months of age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of patients die in neonatal period secondary to respiratory insufficiency n1=en:marked variability in severity of the skin lesions | n2=en:majority of patients die in neonatal period secondary to respiratory insufficiency | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:majority of patients have normal intelligence n1=en:marked variability in severity of the skin lesions | n2=en:majority of patients have normal intelligence | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:male predominance of 3:1 to 5:1 n1=en:marked variability in severity of the skin lesions | n2=en:male predominance of 3:1 to 5:1 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:male to female ratio 4:1 n1=en:marked variability in severity of the skin lesions | n2=en:male to female ratio 4:1 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:male to female ratio is greater than 3:1 n1=en:marked variability in severity of the skin lesions | n2=en:male to female ratio is greater than 3:1 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:male-to-female ratio, 1.8 to 1 n1=en:marked variability in severity of the skin lesions | n2=en:male-to-female ratio, 1.8 to 1 | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:males are most severely affected, but females can also be affected n1=en:marked variability in severity of the skin lesions | n2=en:males are most severely affected, but females can also be affected | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:males may be more affected than females n1=en:marked variability in severity of the skin lesions | n2=en:males may be more affected than females | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:males more affected than females (2 to 2.5:1) n1=en:marked variability in severity of the skin lesions | n2=en:males more affected than females (2 to 2.5:1) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:males tend to have earlier onset than females n1=en:marked variability in severity of the skin lesions | n2=en:males tend to have earlier onset than females | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders n1=en:marked variability in severity of the skin lesions | n2=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:manifestations continue to appear until 5th decade n1=en:marked variability in severity of the skin lesions | n2=en:manifestations continue to appear until 5th decade | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:manifests in infancy (including neonatal lethal) or childhood n1=en:marked variability in severity of the skin lesions | n2=en:manifests in infancy (including neonatal lethal) or childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:many adults with typical form remain ambulatory n1=en:marked variability in severity of the skin lesions | n2=en:many adults with typical form remain ambulatory | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:many cases are asymptomatic n1=en:marked variability in severity of the skin lesions | n2=en:many cases are asymptomatic | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:many patients become wheelchair-bound n1=en:marked variability in severity of the skin lesions | n2=en:many patients become wheelchair-bound | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:many patients lose independent mobility after 25 years n1=en:marked variability in severity of the skin lesions | n2=en:many patients lose independent mobility after 25 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:marked clinical variability within families n1=en:marked variability in severity of the skin lesions | n2=en:marked clinical variability within families | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:marked heterogeneity n1=en:marked variability in severity of the skin lesions | n2=en:marked heterogeneity | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:marked intrafamilial and interfamilial variability n1=en:marked variability in severity of the skin lesions | n2=en:marked intrafamilial and interfamilial variability | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:marked intrafamilial variability of clinical features n1=en:marked variability in severity of the skin lesions | n2=en:marked intrafamilial variability of clinical features | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) n1=en:marked variability in severity of the skin lesions | n2=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:maternal anticipation bias n1=en:marked variability in severity of the skin lesions | n2=en:maternal anticipation bias | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:maternal imprinting n1=en:marked variability in severity of the skin lesions | n2=en:maternal imprinting | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may be asymptomatic n1=en:marked variability in severity of the skin lesions | n2=en:may be asymptomatic | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may be due to imprinting defect n1=en:marked variability in severity of the skin lesions | n2=en:may be due to imprinting defect | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may be lethal in the neonatal period n1=en:marked variability in severity of the skin lesions | n2=en:may be lethal in the neonatal period | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may be precipitated by minor illness (e.g., viral infection, fever) n1=en:marked variability in severity of the skin lesions | n2=en:may be precipitated by minor illness (e.g., viral infection, fever) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may be progressive n1=en:marked variability in severity of the skin lesions | n2=en:may be progressive | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents n1=en:marked variability in severity of the skin lesions | n2=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may be triggered by minor head trauma n1=en:marked variability in severity of the skin lesions | n2=en:may be triggered by minor head trauma | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may fade with age n1=en:marked variability in severity of the skin lesions | n2=en:may fade with age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may have seasonal variance in severity n1=en:marked variability in severity of the skin lesions | n2=en:may have seasonal variance in severity | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features n1=en:marked variability in severity of the skin lesions | n2=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may not be clinically manifest until middle life n1=en:marked variability in severity of the skin lesions | n2=en:may not be clinically manifest until middle life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may occur in adults (also in pregnancy) n1=en:marked variability in severity of the skin lesions | n2=en:may occur in adults (also in pregnancy) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may progress to other body regions after many years n1=en:marked variability in severity of the skin lesions | n2=en:may progress to other body regions after many years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may regress n1=en:marked variability in severity of the skin lesions | n2=en:may regress | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:may show good response to levodopa n1=en:marked variability in severity of the skin lesions | n2=en:may show good response to levodopa | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at diagnosis 8.8 years (range 0.2-23 years) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 10.6 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 10.6 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 15.2 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 15.2 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 22 years (range 7 to 50 years) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 22 years (range 7 to 50 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 24 years (range 14 to 33 years) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 24 years (range 14 to 33 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 28 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 28 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 32 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 32 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 33 years (range 20-60) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 33 years (range 20-60) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 35 years (range 20-60) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 35 years (range 20-60) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 46.5 years (range 19-64) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 46.5 years (range 19-64) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 57-60 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 57-60 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset 66.8 years (range 47-77) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset 66.8 years (range 47-77) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset of bone fractures, 24 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset of bone fractures, 24 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset of cerebellar ataxia is 52.8 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset of cerebellar ataxia is 52.8 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset of dementia is 57 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset of dementia is 57 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset of migraines is 42 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset of migraines is 42 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at onset of proximal muscle weakness, 31 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at onset of proximal muscle weakness, 31 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age at termination 3 to 4 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age at termination 3 to 4 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of diagnosis 40 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age of diagnosis 40 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset 16 to 19 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset 16 to 19 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset 20.6 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset 20.6 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset 22 years (range 5-54) n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset 22 years (range 5-54) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset 30 years (range 25-42) n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset 30 years (range 25-42) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset 31 years (range 5-60) n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset 31 years (range 5-60) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset 35-40 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset 35-40 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset 50 to 52 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset 50 to 52 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset about 62 years (45-79 years) n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset about 62 years (45-79 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset in third decade n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset in third decade | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of onset, 5 years n1=en:marked variability in severity of the skin lesions | n2=en:mean age of onset, 5 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported n1=en:marked variability in severity of the skin lesions | n2=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mean survival 5 months n1=en:marked variability in severity of the skin lesions | n2=en:mean survival 5 months | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:medial onset of end stage renal disease 13 years n1=en:marked variability in severity of the skin lesions | n2=en:medial onset of end stage renal disease 13 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median age at diagnosis, 59 years n1=en:marked variability in severity of the skin lesions | n2=en:median age at diagnosis, 59 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median age at onset 23 years n1=en:marked variability in severity of the skin lesions | n2=en:median age at onset 23 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median age of diagnosis is 28 years n1=en:marked variability in severity of the skin lesions | n2=en:median age of diagnosis is 28 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median age of onset of nail dystrophy - 7 years (range 1-6 years) n1=en:marked variability in severity of the skin lesions | n2=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median age of onset of pigmentation - 8 years (range 1-15 years) n1=en:marked variability in severity of the skin lesions | n2=en:median age of onset of pigmentation - 8 years (range 1-15 years) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median onset of neurologic symptoms is 13 years (range 5 to 28) n1=en:marked variability in severity of the skin lesions | n2=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median survival 5.7 years n1=en:marked variability in severity of the skin lesions | n2=en:median survival 5.7 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:median survival is > 50 years n1=en:marked variability in severity of the skin lesions | n2=en:median survival is > 50 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:medullary thyroid cancer is aggressive and can occur in childhood n1=en:marked variability in severity of the skin lesions | n2=en:medullary thyroid cancer is aggressive and can occur in childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mesomelia becomes more evident with age n1=en:marked variability in severity of the skin lesions | n2=en:mesomelia becomes more evident with age | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:metabolic encephalomyopathic crises often triggered by infection n1=en:marked variability in severity of the skin lesions | n2=en:metabolic encephalomyopathic crises often triggered by infection | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:midline defects n1=en:marked variability in severity of the skin lesions | n2=en:midline defects | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:mild asymmetric regional disease (e.g. 180380.0029) n1=en:marked variability in severity of the skin lesions | n2=en:mild asymmetric regional disease (e.g. 180380.0029) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy n1=en:marked variability in severity of the skin lesions | n2=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:milder form with onset in childhood, absence seizures, and learning difficulties n1=en:marked variability in severity of the skin lesions | n2=en:milder form with onset in childhood, absence seizures, and learning difficulties | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:most patients become wheelchair-bound in the second or third decades n1=en:marked variability in severity of the skin lesions | n2=en:most patients become wheelchair-bound in the second or third decades | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:nine patients have been reported (last curated july 2015) n1=en:marked variability in severity of the skin lesions | n2=en:nine patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:no consistent dysmorphic facial phenotype n1=en:marked variability in severity of the skin lesions | n2=en:no consistent dysmorphic facial phenotype | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:no extraocular findings n1=en:marked variability in severity of the skin lesions | n2=en:no extraocular findings | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate n1=en:marked variability in severity of the skin lesions | n2=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:one family and 2 unrelated patients have been reported (last curated december 2015) n1=en:marked variability in severity of the skin lesions | n2=en:one family and 2 unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:one lebanese family has been reported n1=en:marked variability in severity of the skin lesions | n2=en:one lebanese family has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:one patient has been reported (last curated august 2015) n1=en:marked variability in severity of the skin lesions | n2=en:one patient has been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:one patient reported (last curated november 2012) n1=en:marked variability in severity of the skin lesions | n2=en:one patient reported (last curated november 2012) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset in first decade (as early as infancy in some) n1=en:marked variability in severity of the skin lesions | n2=en:onset in first decade (as early as infancy in some) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset in first decade after normal early development n1=en:marked variability in severity of the skin lesions | n2=en:onset in first decade after normal early development | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset of lymphedema around puberty n1=en:marked variability in severity of the skin lesions | n2=en:onset of lymphedema around puberty | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset of night blindness varies among patients from early childhood to mid thirties n1=en:marked variability in severity of the skin lesions | n2=en:onset of night blindness varies among patients from early childhood to mid thirties | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset of overgrowth in the first year of life (in most cases) n1=en:marked variability in severity of the skin lesions | n2=en:onset of overgrowth in the first year of life (in most cases) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset of symptoms in early childhood in most patients n1=en:marked variability in severity of the skin lesions | n2=en:onset of symptoms in early childhood in most patients | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset of visual dysfunction in early childhood n1=en:marked variability in severity of the skin lesions | n2=en:onset of visual dysfunction in early childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:onset usually in childhood or adolescence n1=en:marked variability in severity of the skin lesions | n2=en:onset usually in childhood or adolescence | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:osteoglophonic, derived from greek meaning hollowed out n1=en:marked variability in severity of the skin lesions | n2=en:osteoglophonic, derived from greek meaning hollowed out | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period n1=en:marked variability in severity of the skin lesions | n2=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms n1=en:marked variability in severity of the skin lesions | n2=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:patients may die in infancy or childhood due to respiratory failure n1=en:marked variability in severity of the skin lesions | n2=en:patients may die in infancy or childhood due to respiratory failure | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported n1=en:marked variability in severity of the skin lesions | n2=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:penetrance estimated to be 80% n1=en:marked variability in severity of the skin lesions | n2=en:penetrance estimated to be 80% | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene n1=en:marked variability in severity of the skin lesions | n2=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:pigmentation not always butterfly-shaped n1=en:marked variability in severity of the skin lesions | n2=en:pigmentation not always butterfly-shaped | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:precipitation by pregnancy n1=en:marked variability in severity of the skin lesions | n2=en:precipitation by pregnancy | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:quinidine therapy may be effective n1=en:marked variability in severity of the skin lesions | n2=en:quinidine therapy may be effective | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:recurrent episodes of liver failure during intercurrent infections n1=en:marked variability in severity of the skin lesions | n2=en:recurrent episodes of liver failure during intercurrent infections | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:relatively mild phenotype n1=en:marked variability in severity of the skin lesions | n2=en:relatively mild phenotype | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:retinal holes were present in an asymptomatic female carrier n1=en:marked variability in severity of the skin lesions | n2=en:retinal holes were present in an asymptomatic female carrier | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:retinitis pigmentosa n1=en:marked variability in severity of the skin lesions | n2=en:retinitis pigmentosa | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:seizures remit spontaneously by age 5 years n1=en:marked variability in severity of the skin lesions | n2=en:seizures remit spontaneously by age 5 years | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:skewed x-inactivation, with complete skewing in some individuals n1=en:marked variability in severity of the skin lesions | n2=en:skewed x-inactivation, with complete skewing in some individuals | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:some patients have onset in second decade of life n1=en:marked variability in severity of the skin lesions | n2=en:some patients have onset in second decade of life | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:some patients may show normal early development before seizure onset n1=en:marked variability in severity of the skin lesions | n2=en:some patients may show normal early development before seizure onset | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:surviving males are postzygotic mosaic for ebp mutations n1=en:marked variability in severity of the skin lesions | n2=en:surviving males are postzygotic mosaic for ebp mutations | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:symptoms present from infancy or early childhood n1=en:marked variability in severity of the skin lesions | n2=en:symptoms present from infancy or early childhood | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:therapy is placement of implantable cardioverter defibrillator (icd) n1=en:marked variability in severity of the skin lesions | n2=en:therapy is placement of implantable cardioverter defibrillator (icd) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:three fetuses from 1 family have been reported (last curated august 2015) n1=en:marked variability in severity of the skin lesions | n2=en:three fetuses from 1 family have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) n1=en:marked variability in severity of the skin lesions | n2=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:three unrelated families have been reported (last curated october 2015) n1=en:marked variability in severity of the skin lesions | n2=en:three unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:three unrelated patients have been reported (last curated december 2015) n1=en:marked variability in severity of the skin lesions | n2=en:three unrelated patients have been reported (last curated december 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:three unrelated patients have been reported (last curated july 2015) n1=en:marked variability in severity of the skin lesions | n2=en:three unrelated patients have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:treatment with sulfonylurea can be effective n1=en:marked variability in severity of the skin lesions | n2=en:treatment with sulfonylurea can be effective | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two families with confirmed adra2b mutations have been reported (last curated june 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) n1=en:marked variability in severity of the skin lesions | n2=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two sibs have been reported (last curated november 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two sibs have been reported (last curated november 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two unrelated consanguineous families have been reported (last curated july 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two unrelated consanguineous families have been reported (last curated july 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two unrelated families have been reported (last curated february 2016) n1=en:marked variability in severity of the skin lesions | n2=en:two unrelated families have been reported (last curated february 2016) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two unrelated families have been reported (last curated june 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two unrelated families have been reported (last curated june 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two unrelated families have been reported (last curated october 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two unrelated families have been reported (last curated october 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:two unrelated patients have been reported (last curated august 2015) n1=en:marked variability in severity of the skin lesions | n2=en:two unrelated patients have been reported (last curated august 2015) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:variable severity of clinical and radiologic manifestations n1=en:marked variability in severity of the skin lesions | n2=en:variable severity of clinical and radiologic manifestations | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> en:weakness during pregnancy in some affected females has been reported n1=en:marked variability in severity of the skin lesions | n2=en:weakness during pregnancy in some affected females has been reported | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> létal n1=en:marked variability in severity of the skin lesions | n2=létal | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> rétinite pigmentaire d'apparition tardive n1=en:marked variability in severity of the skin lesions | n2=rétinite pigmentaire d'apparition tardive | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) n1=en:marked variability in severity of the skin lesions | n2=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> rétinite pigmentaire liée à la rhodopsine n1=en:marked variability in severity of the skin lesions | n2=rétinite pigmentaire liée à la rhodopsine | rel=r_associated | relid=0 | w=20 en:marked variability in severity of the skin lesions -- r_associated #0: 20 / 0.769 -> rétinite pigmentaire liée au sexe récessive 3 n1=en:marked variability in severity of the skin lesions | n2=rétinite pigmentaire liée au sexe récessive 3 | rel=r_associated | relid=0 | w=20

≈ 521 relations entrantes en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea --- r_associated #0: 43 --> en:marked variability in severity of the skin lesions n1=en:heterozygous carriers have blue sclerae, small joint hypermobility, and mild thinning of cornea | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=43 en:in general, men have more severe disease than women --- r_associated #0: 43 --> en:marked variability in severity of the skin lesions n1=en:in general, men have more severe disease than women | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=43 en:inheritance pattern is unclear --- r_associated #0: 43 --> en:marked variability in severity of the skin lesions n1=en:inheritance pattern is unclear | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=43 en:four unrelated families have been reported (last curated august 2015) --- r_associated #0: 42 --> en:marked variability in severity of the skin lesions n1=en:four unrelated families have been reported (last curated august 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=42 en:highly variable frequency and duration of episodes --- r_associated #0: 42 --> en:marked variability in severity of the skin lesions n1=en:highly variable frequency and duration of episodes | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=42 en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) --- r_associated #0: 42 --> en:marked variability in severity of the skin lesions n1=en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=42 en:may occur in adults (also in pregnancy) --- r_associated #0: 42 --> en:marked variability in severity of the skin lesions n1=en:may occur in adults (also in pregnancy) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=42 en:one patient has been reported (last curated august 2015) --- r_associated #0: 42 --> en:marked variability in severity of the skin lesions n1=en:one patient has been reported (last curated august 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=42 en:adrenal insufficiency usually develops later (first decade) --- r_associated #0: 41 --> en:marked variability in severity of the skin lesions n1=en:adrenal insufficiency usually develops later (first decade) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=41 en:diurnal fluctuation of neurologic symptoms --- r_associated #0: 41 --> en:marked variability in severity of the skin lesions n1=en:diurnal fluctuation of neurologic symptoms | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=41 en:episodes occur 30 minutes to 3 hours after exposure to cold --- r_associated #0: 41 --> en:marked variability in severity of the skin lesions n1=en:episodes occur 30 minutes to 3 hours after exposure to cold | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=41 en:gastric suction pump, home model, portable or stationary, electric --- r_associated #0: 41 --> en:marked variability in severity of the skin lesions n1=en:gastric suction pump, home model, portable or stationary, electric | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=41 en:increased risk of myeloproliferative disorders in those with somatic mutations --- r_associated #0: 41 --> en:marked variability in severity of the skin lesions n1=en:increased risk of myeloproliferative disorders in those with somatic mutations | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=41 en:infantile form has onset within first 6 months of life --- r_associated #0: 41 --> en:marked variability in severity of the skin lesions n1=en:infantile form has onset within first 6 months of life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=41 en:clinical and biochemical abnormalities disappear with age --- r_associated #0: 40 --> en:marked variability in severity of the skin lesions n1=en:clinical and biochemical abnormalities disappear with age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=40 en:death usually in first year of life --- r_associated #0: 40 --> en:marked variability in severity of the skin lesions n1=en:death usually in first year of life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=40 en:frequency and severity of symptoms do not worsen with age --- r_associated #0: 40 --> en:marked variability in severity of the skin lesions n1=en:frequency and severity of symptoms do not worsen with age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=40 en:late infantile onset 6-24 months --- r_associated #0: 40 --> en:marked variability in severity of the skin lesions n1=en:late infantile onset 6-24 months | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=40 en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents --- r_associated #0: 40 --> en:marked variability in severity of the skin lesions n1=en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=40 létal --- r_associated #0: 40 --> en:marked variability in severity of the skin lesions n1=létal | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=40 en:50% of cases represent new mutations associated with advanced paternal age --- r_associated #0: 39 --> en:marked variability in severity of the skin lesions n1=en:50% of cases represent new mutations associated with advanced paternal age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=39 en:age of onset of distal lower limb weakness 8-16 years --- r_associated #0: 39 --> en:marked variability in severity of the skin lesions n1=en:age of onset of distal lower limb weakness 8-16 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=39 en:disease shows slow progression --- r_associated #0: 39 --> en:marked variability in severity of the skin lesions n1=en:disease shows slow progression | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=39 en:retinitis pigmentosa --- r_associated #0: 39 --> en:marked variability in severity of the skin lesions n1=en:retinitis pigmentosa | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=39 rétinite pigmentaire d'apparition tardive --- r_associated #0: 39 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire d'apparition tardive | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=39 en:heterozygous females may have situs inversus or other midline defects --- r_associated #0: 38 --> en:marked variability in severity of the skin lesions n1=en:heterozygous females may have situs inversus or other midline defects | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=38 en:lethal --- r_associated #0: 38 --> en:marked variability in severity of the skin lesions n1=en:lethal | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=38 en:majority of cases (95%) are sporadic --- r_associated #0: 38 --> en:marked variability in severity of the skin lesions n1=en:majority of cases (95%) are sporadic | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=38 en:two unrelated families have been reported (last curated june 2015) --- r_associated #0: 38 --> en:marked variability in severity of the skin lesions n1=en:two unrelated families have been reported (last curated june 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=38 en:high frequencies affected before low frequencies --- r_associated #0: 37 --> en:marked variability in severity of the skin lesions n1=en:high frequencies affected before low frequencies | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=37 en:joint laxity decreases with age --- r_associated #0: 37 --> en:marked variability in severity of the skin lesions n1=en:joint laxity decreases with age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=37 en:late-adult onset --- r_associated #0: 37 --> en:marked variability in severity of the skin lesions n1=en:late-adult onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=37 en:early death occurs in affected infants (days to months after disease onset) --- r_associated #0: 36 --> en:marked variability in severity of the skin lesions n1=en:early death occurs in affected infants (days to months after disease onset) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=36 en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') --- r_associated #0: 36 --> en:marked variability in severity of the skin lesions n1=en:highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=36 en:age of onset varies ranging from 3 weeks to 22 years --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:age of onset varies ranging from 3 weeks to 22 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:anemia is responsive to corticosteroid treatment --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:anemia is responsive to corticosteroid treatment | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:approximately 70-80% of cases are de novo and sporadic --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:approximately 70-80% of cases are de novo and sporadic | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:associated with smoking --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:associated with smoking | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:attacks more common in women --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:attacks more common in women | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:autosomal recessive disorder tends to be more severe --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:autosomal recessive disorder tends to be more severe | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:average onset 6-10 months (range 3-24) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:average onset 6-10 months (range 3-24) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:both autosomal dominant and autosomal recessive inheritance has been described --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:both autosomal dominant and autosomal recessive inheritance has been described | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:both mutations occurred de novo --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:both mutations occurred de novo | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:chronic course with exacerbations and remissions --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:chronic course with exacerbations and remissions | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:color vision defects may not be part of the phenotype --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:color vision defects may not be part of the phenotype | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:contractures other than plantar are less common and less severe --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:contractures other than plantar are less common and less severe | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:death in fourth to fifth decade --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:death in fourth to fifth decade | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:diagnosis made when at least 2/3 features present (optic nerve hypoplasia, hypopituitarism with pituitary hypoplasia, midline forebrain defects) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:earlier onset is associated with a more severe disorder --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:earlier onset is associated with a more severe disorder | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:estimated frequence 1/3000 to 1/5000 --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:estimated frequence 1/3000 to 1/5000 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:excessive skin picking of sores --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:excessive skin picking of sores | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:great variation in extent of hypertrophy in mutation-positive individuals --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:great variation in extent of hypertrophy in mutation-positive individuals | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:high frequency hearing loss progresses to include all frequencies --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:high frequency hearing loss progresses to include all frequencies | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:high frequency of absence seizures (several per day) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:high frequency of absence seizures (several per day) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:hypersensitivity to ionizing radiation --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:hypersensitivity to ionizing radiation | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:incidence 1 in 15,000-28,000 births --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:incidence 1 in 15,000-28,000 births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:incomplete penetrance in some families --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:incomplete penetrance in some families | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:incomplete penetrance of optic atrophy --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:incomplete penetrance of optic atrophy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:increased male to female ratio (7.5:1) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:increased male to female ratio (7.5:1) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:infantile onset with hepatic involvement --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:infantile onset with hepatic involvement | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:infants may have acute life-threatening crises --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:infants may have acute life-threatening crises | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:infections may precipitate ketotic episodes --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:infections may precipitate ketotic episodes | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:initial development may appear normal --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:initial development may appear normal | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:isolated finding --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:isolated finding | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:joint symptoms begin in third or fourth decade --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:joint symptoms begin in third or fourth decade | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:later onset may occur --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:later onset may occur | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:later onset of optic atrophy (mean 19 years, range 5 to 50 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:less than 20% have onset at 18 years of age or less (dominant and recessive) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:less than 20% have onset at 18 years of age or less (dominant and recessive) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:majority of children die between 6 months and 5 yrs --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:majority of children die between 6 months and 5 yrs | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:marked clinical variability within families --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:marked clinical variability within families | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:may be triggered by minor head trauma --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:may be triggered by minor head trauma | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:mean age at onset 32 years --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 32 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:mean age at onset 35 years (range 20-60) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 35 years (range 20-60) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:mean age at onset 66.8 years (range 47-77) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 66.8 years (range 47-77) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:mean age at onset of proximal muscle weakness, 31 years --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset of proximal muscle weakness, 31 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:median age of diagnosis is 28 years --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:median age of diagnosis is 28 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:median onset of neurologic symptoms is 13 years (range 5 to 28) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:median onset of neurologic symptoms is 13 years (range 5 to 28) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:midline defects --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:midline defects | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:milder form with onset in childhood, absence seizures, and learning difficulties --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:milder form with onset in childhood, absence seizures, and learning difficulties | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:nine patients have been reported (last curated july 2015) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:nine patients have been reported (last curated july 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:one lebanese family has been reported --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:one lebanese family has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:onset in first decade (as early as infancy in some) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:onset in first decade (as early as infancy in some) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:patient b presented with asymptomatic increased serum creatine kinase and no clinical muscle symptoms | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:therapy is placement of implantable cardioverter defibrillator (icd) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:therapy is placement of implantable cardioverter defibrillator (icd) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:three fetuses from 1 family have been reported (last curated august 2015) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:three fetuses from 1 family have been reported (last curated august 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:two families with confirmed adra2b mutations have been reported (last curated june 2015) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:two families with confirmed adra2b mutations have been reported (last curated june 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:two unrelated families have been reported (last curated october 2015) --- r_associated #0: 35 --> en:marked variability in severity of the skin lesions n1=en:two unrelated families have been reported (last curated october 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=35 en:a milder form has also been reported --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:a milder form has also been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:age of onset between 5 and 10 years of age --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:age of onset between 5 and 10 years of age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:age of onset ranges from 1 to 47 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:age of onset ranges from 1 to 47 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:age of onset/diagnosis 12-35 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:age of onset/diagnosis 12-35 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:asymptomatic patients may show changes on sd-oct --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:asymptomatic patients may show changes on sd-oct | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:average age at diagnosis 17.8 years (range 2-35 years) --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:average age at diagnosis 17.8 years (range 2-35 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:blisters are precipitated by minor skin trauma --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:blisters are precipitated by minor skin trauma | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:death secondary to respiratory infection or failure before age 2 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:death secondary to respiratory infection or failure before age 2 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:diurnal fluctuation --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:diurnal fluctuation | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:hands clenched at birth but loosen in infancy --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:hands clenched at birth but loosen in infancy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:heterozygous females more mildly affected than hemizygous males --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:heterozygous females more mildly affected than hemizygous males | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:highly variable phenotype, even within families --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:highly variable phenotype, even within families | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:immunologic defects are variable --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:immunologic defects are variable | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:incidence of 1 in 1.5 million births --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 1.5 million births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:incidence of 1 in 10,000 to 1 in 20,000 --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 10,000 to 1 in 20,000 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:incidence of 1 in 39,000 --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 39,000 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:infantile form accounts for 90% of cases --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:infantile form accounts for 90% of cases | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:infantile, late-infantile, juvenile, and adult onset have been reported --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:infantile, late-infantile, juvenile, and adult onset have been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:initial hearing loss is mild progressing to severe or profound by the seventh decade --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:initial hearing loss is mild progressing to severe or profound by the seventh decade | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:lesions apparent at birth --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:lesions apparent at birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:lesions continue to grow until epiphyseal plate closure --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:lesions continue to grow until epiphyseal plate closure | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:lethal in utero or perinatal lethal --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:lethal in utero or perinatal lethal | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:lifetime risk of ovarian cancer in mutation carriers is 10 to 20% | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:loss of tumor suppressor gene --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:loss of tumor suppressor gene | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:majority of cases diagnosed at age 10-15 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:majority of cases diagnosed at age 10-15 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:majority of children die before age 2 --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:majority of children die before age 2 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:males more affected than females (2 to 2.5:1) --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:males more affected than females (2 to 2.5:1) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:many patients lose independent mobility after 25 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:many patients lose independent mobility after 25 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:may be asymptomatic --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:may be asymptomatic | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:may regress --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:may regress | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:mean age at onset 10.6 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 10.6 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:mean age at onset 46.5 years (range 19-64) --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 46.5 years (range 19-64) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:mean age at onset of dementia is 57 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset of dementia is 57 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:mean age at onset of migraines is 42 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset of migraines is 42 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:mean age of onset 35-40 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset 35-40 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:mean survival 5 months --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:mean survival 5 months | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:median age of onset of nail dystrophy - 7 years (range 1-6 years) --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:median age of onset of nail dystrophy - 7 years (range 1-6 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:median survival 5.7 years --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:median survival 5.7 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:medullary thyroid cancer is aggressive and can occur in childhood --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:medullary thyroid cancer is aggressive and can occur in childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:one patient reported (last curated november 2012) --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:one patient reported (last curated november 2012) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:patients may die in infancy or childhood due to respiratory failure --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:patients may die in infancy or childhood due to respiratory failure | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:phenotype is due to hypomorphic nonmosaic mutation in the ebp gene | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:relatively mild phenotype --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:relatively mild phenotype | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:symptoms present from infancy or early childhood --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:symptoms present from infancy or early childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:treatment with sulfonylurea can be effective --- r_associated #0: 34 --> en:marked variability in severity of the skin lesions n1=en:treatment with sulfonylurea can be effective | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=34 en:absence seizures show onset between 3.5 and 4 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:absence seizures show onset between 3.5 and 4 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:adult onset has been reported --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:adult onset has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:age at onset 8 to 55 years (mean 40 years) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:age at onset 8 to 55 years (mean 40 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:allelic disorder to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (610978), which is a more severe disorder | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:allelic to metaphyseal dysplasia without hypotrichosis (250460) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:allelic to metaphyseal dysplasia without hypotrichosis (250460) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:carrier females may have mild intellectual disability --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:carrier females may have mild intellectual disability | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:childhood or adolescent onset (usually less than 25 years) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:childhood or adolescent onset (usually less than 25 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:clinical variability, both pure and complicated forms --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:clinical variability, both pure and complicated forms | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:death in infancy secondary to respiratory insufficiency/pneumonia --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:death in infancy secondary to respiratory insufficiency/pneumonia | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:death may occur in infancy --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:death may occur in infancy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:deposits may recur in graft after corneal transplantation --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:deposits may recur in graft after corneal transplantation | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:extrapyramidal signs show a favorable response to levodopa --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:extrapyramidal signs show a favorable response to levodopa | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:eye involvement begins at birth, neurologic involvement begins later --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:eye involvement begins at birth, neurologic involvement begins later | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:first fracture in early childhood --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:first fracture in early childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:four separate types - (1) severe perinatal ('lethal') form, (2) severe infantile form, (3) childhood form, and (4) adult form | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:fracture frequency decreased post puberty --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:fracture frequency decreased post puberty | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:genetic heterogeneity (see 609192) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:genetic heterogeneity (see 609192) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:hair regrowth may occur later in life --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:hair regrowth may occur later in life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:highly variable phenotype that includes several subtypes (see, e.g., 607485, 601104) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:incidence 1-1.5/1,000 live births --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:incidence 1-1.5/1,000 live births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:incidence is estimated to be between 1 in 2,000 and 1 in 7,000 live births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:incomplete penetrance --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:incomplete penetrance | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:intermediate expression in females --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:intermediate expression in females | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:internal organ rupture may occur --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:internal organ rupture may occur | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:later onset (late childhood to young adult) has been reported --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:later onset (late childhood to young adult) has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:leg pain during childhood --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:leg pain during childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:life-threatening infections --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:life-threatening infections | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:long headache duration (greater than 12 hours) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:long headache duration (greater than 12 hours) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:male predominance of 3:1 to 5:1 --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:male predominance of 3:1 to 5:1 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:male-to-female ratio, 1.8 to 1 --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:male-to-female ratio, 1.8 to 1 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:marked heterogeneity --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:marked heterogeneity | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:may fade with age --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:may fade with age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:mean age at onset 28 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 28 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:mean age at onset of bone fractures, 24 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset of bone fractures, 24 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:mean age at onset of cerebellar ataxia is 52.8 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset of cerebellar ataxia is 52.8 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:mean age of diagnosis 40 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:mean age of diagnosis 40 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:mean age of onset 16 to 19 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset 16 to 19 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:mean age of onset 20.6 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset 20.6 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:medial onset of end stage renal disease 13 years --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:medial onset of end stage renal disease 13 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:onset of visual dysfunction in early childhood --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:onset of visual dysfunction in early childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:osteoglophonic, derived from greek meaning hollowed out --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:osteoglophonic, derived from greek meaning hollowed out | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:patient b is 1 child born of unrelated scandinavian parents with a more severe phenotype with onset in the neonatal period | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:penetrance estimated to be 80% --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:penetrance estimated to be 80% | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:retinal holes were present in an asymptomatic female carrier --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:retinal holes were present in an asymptomatic female carrier | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:two unrelated families have been reported (last curated february 2016) --- r_associated #0: 32 --> en:marked variability in severity of the skin lesions n1=en:two unrelated families have been reported (last curated february 2016) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=32 en:adult onset (20 to 50 years) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:adult onset (20 to 50 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:allelic disorder to potassium-aggravated myotonia (608390) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:allelic disorder to potassium-aggravated myotonia (608390) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:associated with hemodialysis --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:associated with hemodialysis | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:associated with increased frequency of autoimmune diseases --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:associated with increased frequency of autoimmune diseases | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:autoimmune features are variable --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:autoimmune features are variable | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:based on a report of 4 patients from 2 consanguineous families (last curated august 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:carrier females show no phenotypic abnormalities, but may have learning difficulties --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:carrier females show no phenotypic abnormalities, but may have learning difficulties | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:caused by inheritance of the mutation on the paternal allele (imprinting) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:caused by inheritance of the mutation on the paternal allele (imprinting) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:childhood onset --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:childhood onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:compound heterozygosity common --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:compound heterozygosity common | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:death due to rapidly progressive pulmonary fibrosis in infancy --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:death due to rapidly progressive pulmonary fibrosis in infancy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:diagnosis within the first 3 months of life --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:diagnosis within the first 3 months of life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:diarrhea worsens in parallel with increases in severity of skin disease --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:diarrhea worsens in parallel with increases in severity of skin disease | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:discordant phenotype among monozygotic twins has been reported --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:discordant phenotype among monozygotic twins has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:early death due to sepsis --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:early death due to sepsis | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:early death in males --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:early death in males | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:episodes last from several hours to days --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:episodes last from several hours to days | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:family a had a severe multisystem disorder resulting in death before age 2 years --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:family a had a severe multisystem disorder resulting in death before age 2 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:four patients from 3 families have been reported (last curated march 2016) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:four patients from 3 families have been reported (last curated march 2016) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:fractures and dental caries and premature secondary tooth loss occur in adulthood --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:fractures and dental caries and premature secondary tooth loss occur in adulthood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:fractures can occur in utero, during labor and delivery, or in newborn period --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:fractures can occur in utero, during labor and delivery, or in newborn period | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:full recovery after attacks --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:full recovery after attacks | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:genetic heterogeneity (see 116800 for summary) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:genetic heterogeneity (see 116800 for summary) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:good response to steroid treatment --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:good response to steroid treatment | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:heterozygotes are not affected --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:heterozygotes are not affected | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:heterozygotes at risk of developing acute, symptomatic methemoglobinemia after exposure to exogenous, methemoglobin-inducing agents | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:highly variable expression --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:highly variable expression | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:highly variable phenotype and severity --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:highly variable phenotype and severity | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:however, neonatal seizures, severe mental retardation, distinct dysmorphic features, and mitochondrial dysfunction are unique to 2p21 deletion syndrome (2p21del) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:incidence 1 in 8,000 live births --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:incidence 1 in 8,000 live births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:incidence of 1 in 50,000 to 1 in 100,000 --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 50,000 to 1 in 100,000 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:infants show normal size and appearance --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:infants show normal size and appearance | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:insidious onset --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:insidious onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:intrafamilial variability in number of missing teeth --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:intrafamilial variability in number of missing teeth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:itch, pain, and body malodor often --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:itch, pain, and body malodor often | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:late-adult onset has been reported --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:late-adult onset has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:lethal in males --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:lethal in males | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:liveborn often die within first week of life --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:liveborn often die within first week of life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:many adults with typical form remain ambulatory --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:many adults with typical form remain ambulatory | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:many cases are asymptomatic --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:many cases are asymptomatic | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:many patients become wheelchair-bound --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:many patients become wheelchair-bound | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:may be due to imprinting defect --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:may be due to imprinting defect | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:may have seasonal variance in severity --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:may have seasonal variance in severity | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:mean age at onset 33 years (range 20-60) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 33 years (range 20-60) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:mean age at termination 3 to 4 years --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:mean age at termination 3 to 4 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:median age of onset of pigmentation - 8 years (range 1-15 years) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:median age of onset of pigmentation - 8 years (range 1-15 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:mild asymmetric regional disease (e.g. 180380.0029) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:mild asymmetric regional disease (e.g. 180380.0029) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:onset of night blindness varies among patients from early childhood to mid thirties --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:onset of night blindness varies among patients from early childhood to mid thirties | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:pigmentation not always butterfly-shaped --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:pigmentation not always butterfly-shaped | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:two sibs have been reported (last curated november 2015) --- r_associated #0: 31 --> en:marked variability in severity of the skin lesions n1=en:two sibs have been reported (last curated november 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=31 en:age at onset 14 to 44 years --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:age at onset 14 to 44 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:age of onset usually 1 week to 2 years --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:age of onset usually 1 week to 2 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:approximately 50% of patients have situs inversus --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:approximately 50% of patients have situs inversus | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:average disease duration of 7 years --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:average disease duration of 7 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:boys are more often affected than girls (3:2) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:boys are more often affected than girls (3:2) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:cutaneous symptoms induced by cold exposure or cooling --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:cutaneous symptoms induced by cold exposure or cooling | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:death from pneumonia --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:death from pneumonia | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:estimated frequency 1/2000-1/4000 individuals --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:estimated frequency 1/2000-1/4000 individuals | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:excessive postsurgical blood loss --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:excessive postsurgical blood loss | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:female carriers may show intermittent hematuria --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:female carriers may show intermittent hematuria | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:fishy body odor --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:fishy body odor | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:heterozygous females may exhibit variable degrees of enzyme deficiency --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:heterozygous females may exhibit variable degrees of enzyme deficiency | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:highly variable clinical phenotype --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:highly variable clinical phenotype | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:hip joint replacement often necessary --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:hip joint replacement often necessary | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:incidence of 1 in 57,000 --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 57,000 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:incomplete penetrance in carrier females --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:incomplete penetrance in carrier females | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:incomplete penetrance with 45 to 51 repeats --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:incomplete penetrance with 45 to 51 repeats | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:increased risk of early death --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:increased risk of early death | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:infantile onset --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:infantile onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:infants are stillborn or die shortly after birth --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:infants are stillborn or die shortly after birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:inflammatory bowel disease may develop in childhood or adolescence --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:inflammatory bowel disease may develop in childhood or adolescence | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:juvenile onset 4 years to puberty --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:juvenile onset 4 years to puberty | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:juvenile rigid early-onset form more often paternally inherited --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:juvenile rigid early-onset form more often paternally inherited | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:ketogenic diet may be effective --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:ketogenic diet may be effective | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:lack of treatment results in early death --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:lack of treatment results in early death | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:late adult onset (after age 55 years) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:late adult onset (after age 55 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:late-adult onset (fifth to sixth decade) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:late-adult onset (fifth to sixth decade) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:length of attack, 3 to 7 days --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:length of attack, 3 to 7 days | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:liver disease may be the most predominant finding --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:liver disease may be the most predominant finding | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:majority of cases are male --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:majority of cases are male | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:males are most severely affected, but females can also be affected --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:males are most severely affected, but females can also be affected | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:manifestations continue to appear until 5th decade --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:manifestations continue to appear until 5th decade | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:may be lethal in the neonatal period --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:may be lethal in the neonatal period | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:mean age at diagnosis 8.8 years (range 0.2-23 years) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:mean age at diagnosis 8.8 years (range 0.2-23 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:mean age of presentation of renal cancer is 50 years, but earlier onset has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:onset usually in childhood or adolescence --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:onset usually in childhood or adolescence | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:three unrelated families have been reported (last curated october 2015) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:three unrelated families have been reported (last curated october 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:three unrelated patients have been reported (last curated july 2015) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:three unrelated patients have been reported (last curated july 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:two sibs each from unrelated saudi arabian families reported (last curated may 2014) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:two sisters born of consanguineous palestinian parents have been reported (last curated september 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:two unrelated consanguineous families have been reported (last curated july 2015) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:two unrelated consanguineous families have been reported (last curated july 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:two unrelated patients have been reported (last curated august 2015) --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:two unrelated patients have been reported (last curated august 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:variable severity of clinical and radiologic manifestations --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=en:variable severity of clinical and radiologic manifestations | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 léthal --- r_associated #0: 30 --> en:marked variability in severity of the skin lesions n1=léthal | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=30 en:(3) adult nonnephropathic (219750) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:(3) adult nonnephropathic (219750) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:age at onset from 3 to 51 years (mean 19.2 years) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:age at onset from 3 to 51 years (mean 19.2 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:allelic disorder to benign hereditary chorea (118700), which is less severe --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:allelic disorder to benign hereditary chorea (118700), which is less severe | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:allelic disorder to early-onset sarcoidosis (609464) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:allelic disorder to early-onset sarcoidosis (609464) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:average age at onset between 40 and 50 years --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:average age at onset between 40 and 50 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:based on one large dutch family (last curated august 2015) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:based on one large dutch family (last curated august 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:based on one sib pair each in their seventies --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:based on one sib pair each in their seventies | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:based on report of 2 sibs in 2008 --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:based on report of 2 sibs in 2008 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:child often can sit unsupported but never ambulates --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:child often can sit unsupported but never ambulates | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:death in perinatal period --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:death in perinatal period | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:death in third or fourth decades, usually due to respiratory infection --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:death in third or fourth decades, usually due to respiratory infection | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:death often occurs in childhood --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:death often occurs in childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:earlier onset is associated with more rapid progression --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:earlier onset is associated with more rapid progression | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:early adult onset has been reported --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:early adult onset has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:end-stage renal failure may occur --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:end-stage renal failure may occur | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:facial palsy often transient in infancy --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:facial palsy often transient in infancy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:familial occurrence is rare --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:familial occurrence is rare | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:favorable response to 3,4-diaminopyridine --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:favorable response to 3,4-diaminopyridine | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:female carriers may be mildly affected --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:female carriers may be mildly affected | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:females often show milder phenotype with later onset of cardiac symptoms --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:females often show milder phenotype with later onset of cardiac symptoms | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:few familial (parent offspring) cases reported --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:few familial (parent offspring) cases reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:frequency of infections decreases after 3 years of age --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:frequency of infections decreases after 3 years of age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:hepatomegaly improves with age and disappears around puberty --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:hepatomegaly improves with age and disappears around puberty | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:heterozygous mutation carriers may have late-onset of mild symptoms --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:heterozygous mutation carriers may have late-onset of mild symptoms | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:high risk of recurrence after surgery --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:high risk of recurrence after surgery | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:highly variable phenotype, ranging from asymptomatic to severe --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:highly variable phenotype, ranging from asymptomatic to severe | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:highly variable severity and features --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:highly variable severity and features | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:highly variable severity, ranging from death in utero to survival to adulthood with normal intelligence | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:improvement with age --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:improvement with age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:in the absence of hydrops, death occurs within 3 months --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:in the absence of hydrops, death occurs within 3 months | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:incidence of 1 in 100,000 to 125,000 at birth --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 100,000 to 125,000 at birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:increased susceptibility to multiple carcinomas --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:increased susceptibility to multiple carcinomas | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:intracellular accumulation of material can occur in neuronal and nonneuronal cells --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:intracellular accumulation of material can occur in neuronal and nonneuronal cells | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:juvenile form has onset between 4 and 19 years --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:juvenile form has onset between 4 and 19 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:late-onset, slowly progressing form of retinitis pigmentosa --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:late-onset, slowly progressing form of retinitis pigmentosa | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:later onset can also occur (up to age 17 years) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:later onset can also occur (up to age 17 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:lifelong occurrence --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:lifelong occurrence | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:limb malformations are variable --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:limb malformations are variable | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:live born infants die within few hours of birth --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:live born infants die within few hours of birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:major cause of death is heart failure --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:major cause of death is heart failure | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:majority are stillborn or die in early neonatal period --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:majority are stillborn or die in early neonatal period | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:majority of cases sporadic --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:majority of cases sporadic | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:male to female ratio is greater than 3:1 --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:male to female ratio is greater than 3:1 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:males may be more affected than females --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:males may be more affected than females | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:maternal imprinting --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:maternal imprinting | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:mean age at onset 15.2 years --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 15.2 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:mean age at onset 24 years (range 14 to 33 years) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 24 years (range 14 to 33 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:mean age of onset 50 to 52 years --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset 50 to 52 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:median age at onset 23 years --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:median age at onset 23 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:most patients become wheelchair-bound in the second or third decades --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:most patients become wheelchair-bound in the second or third decades | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:one family and 2 unrelated patients have been reported (last curated december 2015) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:one family and 2 unrelated patients have been reported (last curated december 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:onset in first decade after normal early development --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:onset in first decade after normal early development | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:recurrent episodes of liver failure during intercurrent infections --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:recurrent episodes of liver failure during intercurrent infections | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:some patients may show normal early development before seizure onset --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:some patients may show normal early development before seizure onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:weakness during pregnancy in some affected females has been reported --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=en:weakness during pregnancy in some affected females has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 rétinite pigmentaire liée à la rhodopsine --- r_associated #0: 29 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire liée à la rhodopsine | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=29 en:abnormal sensitivity to therapeutic radiation --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:abnormal sensitivity to therapeutic radiation | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:all features are unilateral --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:all features are unilateral | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:approximately 40% of cases are inherited or new germline mutations --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:approximately 40% of cases are inherited or new germline mutations | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:average onset of seizures 6 months (range 3-12) --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:average onset of seizures 6 months (range 3-12) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:can also be caused by contiguous gene deletion on chromosome 22q11.2 --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:can also be caused by contiguous gene deletion on chromosome 22q11.2 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:congenital onset --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:congenital onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:deafness tends to occur before other neurologic signs, except in patients with very early onset --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:deafness tends to occur before other neurologic signs, except in patients with very early onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:early onset (9-48 years, but reported up to 68 years) --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:early onset (9-48 years, but reported up to 68 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:fatal before age 2 years --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:fatal before age 2 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:favorable response to ephedrine treatment --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:favorable response to ephedrine treatment | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:fractures decrease after puberty but increase after menopause --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:fractures decrease after puberty but increase after menopause | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:genetic heterogeneity (see mcc1 deficiency 210200) --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:genetic heterogeneity (see mcc1 deficiency 210200) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:gonadal and somatic mosaicism reported in parent --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:gonadal and somatic mosaicism reported in parent | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:high frequency of levodopa-induced dyskinesias --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:high frequency of levodopa-induced dyskinesias | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:high recurrence rate --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:high recurrence rate | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:highly penetrant, but low morbidity --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:highly penetrant, but low morbidity | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:highly variable phenotype with respect to facial dysmorphism and neurologic features --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:highly variable phenotype with respect to facial dysmorphism and neurologic features | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:hydrops fetalis is associated with death in utero (90%) or within 2 days of birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:hyperkeratosis often present at birth but may appear later --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:hyperkeratosis often present at birth but may appear later | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:icelandic families --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:icelandic families | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:in severe attacks, hemiplegia or coma may last days to weeks --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:in severe attacks, hemiplegia or coma may last days to weeks | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:incidence - 1/16,000 live births --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:incidence - 1/16,000 live births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:incidence 1 in 30,000 male births --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:incidence 1 in 30,000 male births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:incidence of 1 in 120,000 live births --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 120,000 live births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:incidence ranges from 1 in 40,000 to 1 in 350,000 births --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:incidence ranges from 1 in 40,000 to 1 in 350,000 births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:increased paternal age --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:increased paternal age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:increased recurrence risk with parental translocation --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:increased recurrence risk with parental translocation | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:independent ambulation is maintained --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:independent ambulation is maintained | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:inflammatory arthritis may develop in 30% of patients --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:inflammatory arthritis may develop in 30% of patients | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:left sided involvement occurs more frequently --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:left sided involvement occurs more frequently | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:levodopa-induced dyskinesias --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:levodopa-induced dyskinesias | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:liver symptoms improve with age and disappear after puberty --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:liver symptoms improve with age and disappear after puberty | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:loss of ambulation --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:loss of ambulation | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:lower limb weakness is presenting feature --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:lower limb weakness is presenting feature | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:majority are isolated cases --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:majority are isolated cases | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:majority die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:majority die in neonatal period secondary to respiratory insufficiency | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:majority of patients are stillborn or die before 5 months of age --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:majority of patients are stillborn or die before 5 months of age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:marked intrafamilial and interfamilial variability --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:marked intrafamilial and interfamilial variability | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:marked intrafamilial variability of clinical features --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:marked intrafamilial variability of clinical features | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:mean age of onset in third decade --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset in third decade | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:milder cases have isolated recurrent daytime sleepiness and/or lapses into sleep without cataplexy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:no extraocular findings --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:no extraocular findings | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:occurs in a southern maryland tri-racial inbred population known as the brandywine isolate | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:onset of lymphedema around puberty --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:onset of lymphedema around puberty | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:precipitation by pregnancy --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:precipitation by pregnancy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:skewed x-inactivation, with complete skewing in some individuals --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:skewed x-inactivation, with complete skewing in some individuals | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:three unrelated patients have been reported (last curated december 2015) --- r_associated #0: 28 --> en:marked variability in severity of the skin lesions n1=en:three unrelated patients have been reported (last curated december 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=28 en:about 20% of female mutation carriers may show mild muscle weakness --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:about 20% of female mutation carriers may show mild muscle weakness | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:adult onset --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:adult onset | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:affected individuals have a relatively mild ichthyosis phenotype --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:affected individuals have a relatively mild ichthyosis phenotype | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:age at diagnosis 24 +/- 18 years for dominant disease --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:age at diagnosis 24 +/- 18 years for dominant disease | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:allelic to hydropic and prenatally lethal chondrodystrophy (215140) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:associated with advanced paternal age --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:associated with advanced paternal age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:autosomal recessive form (277720) has also been described --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:autosomal recessive form (277720) has also been described | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:based on one jordanian family (last curated august 2015) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:based on one jordanian family (last curated august 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:based on report of 4 patients from 1 family (last curated july 2015) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:based on report of 4 patients from 1 family (last curated july 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:bleeding is usually delayed-onset after challenge --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:bleeding is usually delayed-onset after challenge | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:classic severe form shows onset at 2 to 3 months of age --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:classic severe form shows onset at 2 to 3 months of age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:clinical presentation varies from asymptomatic to fulminant course --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:clinical presentation varies from asymptomatic to fulminant course | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:coloboma is associated with larger microdeletion (490kb) of 11q13 --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:coloboma is associated with larger microdeletion (490kb) of 11q13 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:death before age 40 --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:death before age 40 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:death usually in childhood --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:death usually in childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:death usually in newborn period or infancy --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:death usually in newborn period or infancy | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:dwarfism not detectable at birth --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:dwarfism not detectable at birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:early death (usually by 3 years of age) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:early death (usually by 3 years of age) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:episode frequency is monthly to yearly, and decreases with age --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:episode frequency is monthly to yearly, and decreases with age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:estimated incidence of 1-2 in 10,000 --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:estimated incidence of 1-2 in 10,000 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:foot deformities are present in infancy or childhood --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:foot deformities are present in infancy or childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:four unrelated families have been reported (last curated september 2015) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:four unrelated families have been reported (last curated september 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:gradual progression --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:gradual progression | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:hearing loss occurs in late childhood --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:hearing loss occurs in late childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:hearing loss occurs later if at all --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:hearing loss occurs later if at all | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:highly variable frequency and severity of attacks --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:highly variable frequency and severity of attacks | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:highly variable phenotype, some adults may be asymptomatic --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:highly variable phenotype, some adults may be asymptomatic | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:homozygotes have more severe disease with earlier onset of thrombosis --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:homozygotes have more severe disease with earlier onset of thrombosis | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:hypothyroidism is less severe in individuals with high dietary iodine intake --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:hypothyroidism is less severe in individuals with high dietary iodine intake | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:incidence 1/100,000 - 1/200,000 live births --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:incidence 1/100,000 - 1/200,000 live births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:incidence 8/1,000 newborns --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:incidence 8/1,000 newborns | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:incidence of 1 in 3,500 boys --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 3,500 boys | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:incidence of 1 in 5,000 to 1 in 10,000 --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 5,000 to 1 in 10,000 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:incomplete penetrance (50%) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:incomplete penetrance (50%) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:intermittent exacerbations --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:intermittent exacerbations | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:intrafamilial phenotypic variation may occur --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:intrafamilial phenotypic variation may occur | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:later onset has been reported --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:later onset has been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:left side involvement more frequent than right side involvement --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:left side involvement more frequent than right side involvement | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:lesions provoked by friction, sun exposure, heat, and injury --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:lesions provoked by friction, sun exposure, heat, and injury | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:lifetime risk of breast cancer in mutation carriers is 60 to 85% --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:lifetime risk of breast cancer in mutation carriers is 60 to 85% | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:lower limb involvement occurs before upper limb involvement --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:lower limb involvement occurs before upper limb involvement | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:major fluid shifts may occur in severe cases --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:major fluid shifts may occur in severe cases | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:majority of cases are sporadic, often in tall, thin men --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:majority of cases are sporadic, often in tall, thin men | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:majority of cases have been sporadic --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:majority of cases have been sporadic | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:majority of patients are ambulatory --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:majority of patients are ambulatory | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:majority of patients die in neonatal period secondary to respiratory insufficiency --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:majority of patients die in neonatal period secondary to respiratory insufficiency | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:majority of patients have normal intelligence --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:majority of patients have normal intelligence | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:male to female ratio 4:1 --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:male to female ratio 4:1 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:manifests in infancy (including neonatal lethal) or childhood --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:manifests in infancy (including neonatal lethal) or childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:may be precipitated by minor illness (e.g., viral infection, fever) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:may be precipitated by minor illness (e.g., viral infection, fever) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:may be progressive --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:may be progressive | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:mean age at onset 22 years (range 7 to 50 years) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 22 years (range 7 to 50 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:mean age at onset 57-60 years --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:mean age at onset 57-60 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:mean age of onset 31 years (range 5-60) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset 31 years (range 5-60) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:mean age of onset about 62 years (45-79 years) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset about 62 years (45-79 years) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:mean age of onset, 5 years --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset, 5 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:median age at diagnosis, 59 years --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:median age at diagnosis, 59 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:mesomelia becomes more evident with age --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:mesomelia becomes more evident with age | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:metabolic encephalomyopathic crises often triggered by infection --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:metabolic encephalomyopathic crises often triggered by infection | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:patients with homozygous, compound heterozygous, and heterozygous mutation have been reported | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:some patients have onset in second decade of life --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:some patients have onset in second decade of life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:surviving males are postzygotic mosaic for ebp mutations --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:surviving males are postzygotic mosaic for ebp mutations | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=en:two sibs from a consanguineous syrian family have been reported (last curated july 2015) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) --- r_associated #0: 27 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire liée à la PDEB (1-bp del, his557-to-tyr) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=27 en:adult onset (wide range of age) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:adult onset (wide range of age) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:affected individuals may have more than 1 cardiac structural defect, or none at all --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:affected individuals may have more than 1 cardiac structural defect, or none at all | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:all cases sporadic (18 males, 7 females) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:all cases sporadic (18 males, 7 females) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:autosomal recessive inheritance with earlier onset has been reported in 3 patients --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:autosomal recessive inheritance with earlier onset has been reported in 3 patients | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:based on report of 2 individuals (last curated november 2013) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:based on report of 2 individuals (last curated november 2013) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:cardiac examination is usually unremarkable --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:cardiac examination is usually unremarkable | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:cardiomyopathy is not a feature --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:cardiomyopathy is not a feature | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:death in infancy in 2 patients --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:death in infancy in 2 patients | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:death in majority of infants soon after birth --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:death in majority of infants soon after birth | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:death secondary to renal failure, cardiac or cerebrovascular disease --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:death secondary to renal failure, cardiac or cerebrovascular disease | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:distinct from pseudopili annulati (613241) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:distinct from pseudopili annulati (613241) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:drug-induced dyskinesias occur in a subset of patients --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:drug-induced dyskinesias occur in a subset of patients | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:early death may occur --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:early death may occur | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:elevated body temperatures to 42 degrees celsius --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:elevated body temperatures to 42 degrees celsius | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:exacerbated by stress --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:exacerbated by stress | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:facial dysmorphic features are mild --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:facial dysmorphic features are mild | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:female carriers may be affected --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:female carriers may be affected | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:genetic heterogeneity (may be caused by mutation in nuclear-encoded or mitochondrial-encoded genes) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:genetic heterogeneity (see 161800) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:genetic heterogeneity (see 161800) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:genetic heterogeneity (see 605407) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:genetic heterogeneity (see 605407) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:hepatic failure develops in first months of life --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:hepatic failure develops in first months of life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:highly variable organ involvement and severity --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:highly variable organ involvement and severity | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:hyperthermia in early childhood --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:hyperthermia in early childhood | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:incidence of 1 in 100,000 births --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:incidence of 1 in 100,000 births | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:increased aneuploidy in offspring --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:increased aneuploidy in offspring | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:increased sensitivity to valproic acid toxicity --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:increased sensitivity to valproic acid toxicity | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:interfamilial and intrafamilial clinical heterogeneity --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:interfamilial and intrafamilial clinical heterogeneity | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:later onset of neurologic features --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:later onset of neurologic features | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:liver size returns to normal after 3 months to 3 years --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:liver size returns to normal after 3 months to 3 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:madelung deformity more frequent and more severe in females --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:madelung deformity more frequent and more severe in females | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:males tend to have earlier onset than females --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:males tend to have earlier onset than females | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:maternal anticipation bias --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:maternal anticipation bias | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:may not be clinically manifest until middle life --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:may not be clinically manifest until middle life | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:may progress to other body regions after many years --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:may progress to other body regions after many years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:may show good response to levodopa --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:may show good response to levodopa | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:mean age of onset 22 years (range 5-54) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset 22 years (range 5-54) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:mean age of onset 30 years (range 25-42) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:mean age of onset 30 years (range 25-42) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:median survival is > 50 years --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:median survival is > 50 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:no consistent dysmorphic facial phenotype --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:no consistent dysmorphic facial phenotype | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:onset of overgrowth in the first year of life (in most cases) --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:onset of overgrowth in the first year of life (in most cases) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:onset of symptoms in early childhood in most patients --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:onset of symptoms in early childhood in most patients | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:quinidine therapy may be effective --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:quinidine therapy may be effective | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 en:seizures remit spontaneously by age 5 years --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=en:seizures remit spontaneously by age 5 years | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 rétinite pigmentaire liée au sexe récessive 3 --- r_associated #0: 26 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire liée au sexe récessive 3 | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=26 rétinite pigmentaire --- r_associated #0: 24 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=24 rétinite pigmentaire et retard mental --- r_associated #0: 24 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire et retard mental | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=24 rétinite pigmentaire liée à la périphérine --- r_associated #0: 23 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire liée à la périphérine | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=23 rétinite pigmentaire liée à la périphérine (pro219leu) --- r_associated #0: 23 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire liée à la périphérine (pro219leu) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=23 rétinite pigmentaire, surdité, retard mental, et hypogonadisme --- r_associated #0: 23 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire, surdité, retard mental, et hypogonadisme | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=23 rétinopathie pigmentaire --- r_associated #0: 23 --> en:marked variability in severity of the skin lesions n1=rétinopathie pigmentaire | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=23 rétinite pigmentaire sénile --- r_associated #0: 22 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire sénile | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=22 létale --- r_associated #0: 21 --> en:marked variability in severity of the skin lesions n1=létale | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=21 lésions --- r_associated #0: 20 --> en:marked variability in severity of the skin lesions n1=lésions | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=20 peau --- r_associated #0: 20 --> en:marked variability in severity of the skin lesions n1=peau | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=20 atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré --- r_associated #0: 10 --> en:marked variability in severity of the skin lesions n1=atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=10 quadriplégie spastique, rétinite pigmentaire et retard mental --- r_associated #0: 10 --> en:marked variability in severity of the skin lesions n1=quadriplégie spastique, rétinite pigmentaire et retard mental | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=10 rétinite pigmentaire (classification de Fishman) --- r_associated #0: 10 --> en:marked variability in severity of the skin lesions n1=rétinite pigmentaire (classification de Fishman) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=10 Lester (signe de) --- r_associated #0: 5 --> en:marked variability in severity of the skin lesions n1=Lester (signe de) | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=5 Létal --- r_associated #0: 5 --> en:marked variability in severity of the skin lesions n1=Létal | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=5 Rétinite pigmentaire --- r_associated #0: 5 --> en:marked variability in severity of the skin lesions n1=Rétinite pigmentaire | n2=en:marked variability in severity of the skin lesions | rel=r_associated | relid=0 | w=5